Neurosciences - Mayo Clinic News Network https://newsnetwork.mayoclinic.org/category/neurosciences/ News Resources Mon, 07 Apr 2025 13:16:28 +0000 en-US hourly 1 https://wordpress.org/?v=6.7.2 New study in Brain Communications finds personalized deep brain stimulation shows promise for drug-resistant epilepsy https://newsnetwork.mayoclinic.org/discussion/new-study-in-brain-communications-finds-personalized-deep-brain-stimulation-shows-promise-for-drug-resistant-epilepsy/ Mon, 07 Apr 2025 13:16:27 +0000 https://newsnetwork.mayoclinic.org/?p=401749 ROCHESTER, Minn. — A study published in Brain Communications highlights a new approach to treating drug-resistant epilepsy. Researchers at Mayo Clinic have developed an innovative deep brain stimulation (DBS) platform that was used to not only reduce seizures, but also improve memory and sleep — two common challenges for patients with epilepsy. Epilepsy, a seizure […]

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medical illustration or graphic of a brain having a seizure representing epilepsy

ROCHESTER, Minn. — A study published in Brain Communications highlights a new approach to treating drug-resistant epilepsy. Researchers at Mayo Clinic have developed an innovative deep brain stimulation (DBS) platform that was used to not only reduce seizures, but also improve memory and sleep — two common challenges for patients with epilepsy.

Epilepsy, a seizure disorder that affects about 50 million people worldwide, often disrupts memory, emotions and sleep. Many cases are drug-resistant, leaving people with limited treatment options. Researchers at Mayo Clinic found that low-frequency DBS not only reduced seizures, but it also improved memory and sleep.

"Using an implanted investigational device, the team continuously monitored brain activity with AI-driven seizure and sleep tracking," says Gregory Worrell, M.D., Ph.D., Mayo Clinic neurologist and co-lead author of the study. "A cloud-based platform simultaneously assessed participants' behavior, memory and mood at home. This real-time data enables precise tuning of stimulation settings, maximizing benefits while minimizing side effects."

"By using an implanted device that continuously monitors brain activity, we can detect seizures more accurately than patient-reported diaries in order to optimize deep brain stimulation in real-time and improve treatment," says Vaclav Kremen, Ph.D., Mayo Clinic researcher and co-lead author of the study.

The researchers monitored five patients with temporal lobe epilepsy throughout their DBS treatment. The system allowed patients to track their brain activity and symptoms remotely, providing doctors with detailed, real-world data to fine-tune treatments. This technology could lead to more effective treatments for drug-resistant epilepsy and could be expanded to treat other neurological and psychiatric disorders.

"Our study demonstrates the potential of emerging neurotechnology to treat human disease," says Jamie Van Gompel, M.D., Mayo Clinic neurosurgeon and co-author of the study.

"Combining neuroscience, engineering and artificial intelligence, our work is paving the way for more personalized and effective treatments for epilepsy and other brain disorders," says Dr. Worrell.

The study was supported by the National Institutes of Health — National Institute of Neurological Disorders and Stroke, Defense Advanced Research Projects Agency, and the CLARA project, which has received funding from the European Union's Horizon Europe research and innovation program.  The implanted devices were donated by Medtronic as part of the National Institutes of Health Brain Initiative Public-Private Partnership.

Review the study for a complete list of authors, disclosures and funding. 

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Grounded in gratitude, embracing treatment with hope https://newsnetwork.mayoclinic.org/discussion/grounded-in-gratitude-embracing-treatment-with-hope/ Fri, 04 Apr 2025 12:37:31 +0000 https://newsnetwork.mayoclinic.org/?p=401664 Born into a loving family in rural Nebraska, Joy Carol was raised to appreciate nature, believe in God, and help others. Her parents also instilled in her a passion for life that is a core component of who she is. “My family gave me that kind of feeling about life, it’s worth living. I want […]

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Born into a loving family in rural Nebraska, Joy Carol was raised to appreciate nature, believe in God, and help others. Her parents also instilled in her a passion for life that is a core component of who she is.

“My family gave me that kind of feeling about life, it’s worth living. I want to live, and I'm going to live as long as I can,” says Joy, who is 85.

Her parents also nurtured her thirst for knowledge. Her home in Penney Farms, Florida, is filled with books, and she has authored or co-authored nine of her own.

“I'm a person who really wants to know, I want information,” Joy says. “I don't want to go without knowing what's going on. My dad always told me, ‘Ask more questions. If you don't know the answer, find somebody who might know.’”

That philosophy kept her motivated to push for answers throughout her 2013 medical ordeal when a paraneoplastic neuroautoimmune disorder almost took her life.

“I believe in testing because information is power,” Joy says. “And anyone who says, ‘I don’t want to have a test done,’ I think is foolish. You’re wise if you say, ‘I am ready to find out, and then let’s see what we can do.”

When the usual tests performed on Joy did not yield answers, a member of her New York City medical team sought outside help and sent Joy’s specimen to Mayo Clinic Laboratories.

“A couple of her original physicians with perseverance found the right test,” says Joy’s neurologist Kurt Jaeckle, M.D., emeritus professor of neurology at Mayo Clinic. “It completely reversed the whole situation with respect to her medical condition. I think that she might not be alive if that test had not been done. That's how powerful it was in this situation.”

A slow, uphill climb

When Joy learned the specific reason for her body’s sudden decline — a paraneoplastic autoimmune disorder identified by Mayo Clinic Laboratories antibody testing — and that treatment was available, she gratefully embraced therapy.

The first stage of her treatment involved surgical removal of the breast cancer and affected lymph nodes. As soon as she’d recovered from surgery, Joy underwent chemotherapy and radiation to target the remaining cancer cells.

Next, because the antibodies in her immune system continued their affront on her nerve cells, Joy underwent plasmapheresis to remove the harmful proteins from her blood. But that process, which entails removing the blood, cleaning it by spinning it through a centrifuge to separate and remove the antibodies, and then reinserting it, failed to improve her symptoms.

As a next step, Joys’ New York healthcare team started her on Rituxan, a biologic drug with the ability to interfere with the body’s immune response. The aggressive therapy was delivered slowly via infusion over the course of many hours to prevent side effects that could be fatal to Joy given her diminished state.

“I was on Rituxan for five weeks before I started to be able to turn over in bed, so that was really the beginning of my new life,” Joy says.

During one of Joy’s frequent appointments with her New York City neurological team in the months following diagnosis, she learned about a physician who specialized in paraneoplastic autoimmune disorders who was willing to treat her. That doctor was Kurt Jaeckle, M.D.

“When I was told there was a doctor at Mayo Clinic in Florida that knew something about this illness and might be able to treat me, I finally decided I needed to leave my beloved New York,” Joy says. “And I left everything. I gave things away. I sold my apartment. I only took my easy chair, a few clothes, a few books, some tchotchkes, and I came to Florida to be close to Mayo Clinic.”

When Dr. Jaeckle first met Joy, she was on her road to recovery. Her breathing ability and ability to talk were returning to baseline, but she continued to struggle with walking and controlling her arms.

“There was quite a lot to do in terms of just her mobility and getting her to walk normally and up on her own two feet — that had not gotten to where it could be,” Dr. Jaeckle says.

Never give up

Little by little, with ongoing physical therapy, Joy began to heal.

“Of course, I have this spirit that was not going to ever give up,” Joy says. “I was so scrawny I couldn’t even lift up a one-pound weight.”

Eventually, Joy regained enough strength to stand and move her legs.

“What I’ve seen happen over the years is that with constant therapy, she’s made it back,” Dr. Jaeckle says. “She uses some assistance with devices that help her walk, but in all honesty, she can even walk a few steps on her own. She was bedbound when she started with me. I’ve seen that recovery over the last 10 years to where she’s gotten to do things all on her own.”

Not long after transitioning care to Dr. Jaeckle, Joy stopped taking the Rituxan and began steroid therapy. Administered every other month, the treatment’s side effects are much more manageable.

The resilience Joy has exuded throughout her medical journey has been impressive, Dr. Jaeckle says. “Her fortitude in dealing with this, she does these exercises at home on her own without provocation. She doesn't need anyone to encourage her, she does that herself. She doesn’t let anything stop her. She comes alone to the clinic and is taking trips overseas, and things that I might not do myself, so it’s quite surprising.”

The strength Joy has shown in reclaiming her life is rooted in another lesson her parents taught her.

“I have a sign on my refrigerator door, which says, Falling down is part of life. Getting up is living,” Joy says. “And then I have the sign, of course, Never, never, never give up, which my father always told me too.”

An ongoing testing journey

As part of Joy’s care, she receives laboratory testing several times each year to check her antibody levels and cancer status.

“In this situation, the antibodies are measurable in certain amounts in the bloodstream, and if you see a drop in the antibody titer that means you’re in the right direction,” Dr. Jaeckle says. “Whereas if it’s going up, you’re going in the wrong direction or the tumor is back.”

For many years Joy’s antibodies have been undetectable. “They’re gone, but if it were to rise again, we would be suspicious and we would start looking for the cancer,” Dr. Jaeckle says.

Because the condition will be with her for the rest of her life, Joy relies on testing to know if her illness is advancing.

“I can’t imagine not testing and seeing where I stand, how my antibodies are doing, how my blood is doing, how the treatments I am getting might have an impact on some of my vital organs,” Joy says. “It all fits together and I believe that is why I am doing so well. So poke me, X-ray me, do whatever you need to because it is the way I will be a happy, healthy patient.”

For patients like Joy, laboratory testing is crucial to providing the best possible patient care.

“I don’t think we could function nearly as well without the testing,” Dr. Jaeckle says. “It has to be used properly and judiciously, but when used in that fashion, it becomes very powerful in assisting us with not only making a diagnosis, but also monitoring the response to therapy. I don’t know how you could get by without that type of testing and take care of people properly.”

Moving into the future with gratitude

Supported by her Mayo Clinic team, Joy continues to feel well and has no plans to slow down.

“Life is not always easy, it can be very difficult — it has been for me — but I still say I am going to find something in my life that is worth living for.”

For Joy, that means continuing to be involved in her community: singing with her choir, preaching in her church, gardening in her backyard, traveling, and visiting friends.

“I’m one of these people who has endless energy and as long as I am alive, I will be involved in something,” Joy says. “There is no way I am going to just be sitting there watching television or playing cards — I am going to be doing something that’s meaningful for me and hopefully for others. I really know as long as I have hope and I can still plant one flower in my garden and I'm still feeding the hummingbirds in my backyard and I can still sing, I have something to live for.”

This article first appeared on the Mayo Clinic Laboratories blog. That's where you can also view all episodes of “Life of a Specimen.

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(VIDEO) When seizures don’t stop: The battle against drug-resistant epilepsy https://newsnetwork.mayoclinic.org/discussion/video-when-seizures-dont-stop-the-battle-against-drug-resistant-epilepsy/ Wed, 02 Apr 2025 17:30:44 +0000 https://newsnetwork.mayoclinic.org/?p=401236 For Anthony Maita, 'Buddy' is not just any other dog. "He's the best thing that's ever happened to me," says Anthony. It's no wonder, considering Buddy was right by Anthony's side during one of the most challenging times of his life — when Anthony began having epileptic seizures. Watch: When seizures don't stop: Anthony's battle […]

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Anthony Maita and his dog Buddy

For Anthony Maita, 'Buddy' is not just any other dog.

"He's the best thing that's ever happened to me," says Anthony.

It's no wonder, considering Buddy was right by Anthony's side during one of the most challenging times of his life — when Anthony began having epileptic seizures.

Watch: When seizures don't stop: Anthony's battle against drug-resistant epilepsy

Journalists: Broadcast-quality video (2:38) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

"I started having the seizures, noticeable seizures, and from there, it just started getting worse and worse," recalls Anthony.

It began after Anthony graduated from high school. He was making plans for his future and looking forward to attending college. That's when the seizures began.

Initially, the seizures were mild but quickly became more severe. "The experience (seizure) is like a loss of time, like a blank spot in your memory — like you're waking up without any recollection of what happened," says Anthony.

"The seizures were several times a week. His lips would be blue. His mouth would be blue," says Patricia Maita, Anthony's mother. "It so hard to see your child go through that and feel so helpless."

Doctors tried to manage Anthony's seizures with medication, but nothing worked. Eventually Anthony was diagnosed with drug-resistant epilepsy, or DRE.

In search of hope, Anthony's family turned to Mayo Clinic in Arizona.

Anthony during assesment with neurosurgeon Dr. Jonathon J. Parker at Mayo Clinic in Arizona

"Up to a third of patients who develop epilepsy during their life will become resistant to medication," explains Jonathon J. Parker, M.D., Ph.D., a neurosurgeon at Mayo Clinic who specializes in treating the most serious and complex cases of epilepsy, including DRE.

"These patients have tried at least two medications, and they're still having seizures. At that point, we know the chances of seizure freedom unfortunately become very low, and that's when we start looking at other options," says Dr. Parker.

A battle for millions worldwide

Anthony is one of approximately 50 million people worldwide diagnosed with epilepsy. It is one of the most common neurological disorders globally. It is characterized by recurrent unprovoked seizures caused by abnormal electrical activity in the brain.

Approximately 15 million people worldwide are diagnosed with drug-resistant epilepsy

Of those diagnosed with epilepsy, approximately 30%, or 15 million people, are considered medication-resistant. Uncontrolled seizures often rob many people of their ability to live and function independently.

While it is rare, seizures can lead to sudden unexplained death in epilepsy, or SUDEP. "We know that more frequent seizures mean the patient is at higher risk of SUDEP, so that's why we are very aggressive about treating epilepsy with all the tools we have available," says Dr. Parker.

Current treatment options for patients with DRE include surgical procedures such as brain resection to remove a portion of the brain tissue responsible for generating seizures. A less invasive procedure involves laser ablation therapy that pinpoints and destroys abnormal brain tissue. While often effective, these surgical approaches carry the risk of possible side effects, such as memory impairment, motor deficits and speech difficulties. 

Neuromodulation is another surgical approach that uses electrical or magnetic stimulation to interrupt abnormal neural activity without removing brain tissue.

Unlocking new hope for patients

Now, a growing number of scientists across the globe are part of an innovative trend in research, investigating novel ways to treat DRE. It involves the use of regenerative medicine as a "reparative" approach to help the brain heal. 

Dr. Parker is the lead investigator of the first-in-human clinical trial at Mayo Clinic which studies the use of implanted specialized inhibitory brain cells as a potential reparative treatment for DRE. Dr. Parker's clinical trial is underway in Arizona.

Dr. Parker and team during brain cell implant procedure at Mayo Clinic in Arizona

"This is an exciting time for regenerative medicine and the potential it may have for millions of people who suffer from the debilitating side effects of drug-resistant epilepsy."

Dr. Jonathon J. Parker, neurosurgeon and clinical trial lead investigator

Mayo Clinic in Arizona is one of 29 sites nationwide participating in the inhibitory brain cell implant clinical trial for patients with focal epilepsy, where seizures originate in a specific region of the brain. 

Anthony became Mayo Clinic's first patient to undergo the investigational brain cell implant. 

"We use a very minimally invasive technique where we inject the inhibitory cells through a pencil eraser-sized incision in the back of the head. Our hope is that, over time, these cells become part of the brain and help repair the neural circuitry, and reduce or prevent seizures without the side effects," says Dr. Parker. The cells are implanted in a one-time, single-dose procedure.

"Honestly, it was pretty easy," says Anthony. "I had no trouble with it." Anthony was discharged from the hospital the next day.

Doctors say it is still too early to determine whether the brain cell implant was effective, but they are hopeful.

Dr. Amy Z. Crepeau and Anthony after brain cell implant at Mayo Clinic

"Anthony has been doing great since the procedure," says Dr. Amy Z. Crepeau, a neurologist at Mayo Clinic. "We have a great deal of optimism in regard to the potential of this brain cell therapy. Developing a safe and effective, minimally invasive treatment that does not carry the possible negative side effects could be a game changer in treating patients with DRE and improving their quality of life."

Tabitha's life-long struggle to control seizures

Tabitha Wilson lives in fear, never knowing when or where the next seizure will strike.

The Florida resident was diagnosed with epilepsy at the age of 2. She was placed on medication that adequately managed her seizures — until the week before her high school graduation. 

Tabitha was diagnosed with epilepsy at the age of 2 Photo courtesy: Tabitha Wilson

"I was 17 years old sitting in history class when the seizure happened," recalls Tabitha. "They had to load me up in an ambulance in front of the whole school."

"It was traumatizing. Something I will never forget."

Tabitha Wilson describing her seizure during class in high school

Tabitha tried new types of medications, but the seizures only got worse.

"I fell down a flight of stairs, burned myself while cooking. I've completely blacked out and don't know where I am or who you are," says Tabitha. She was eventually diagnosed with drug-resistant epilepsy.

Tabitha underwent three brain surgeries to treat her DRE. Still, the seizures continued.

"I'll have good days and bad days. Some days, I'll have two, three, four seizures, back-to-back," says Tabitha.

Tabitha Wilson, drug-resistant epilepsy patient, FL
Despite the sudden return of her seizures just a week earlier, Tabitha walked proudly with her high school graduation class
Photo courtesy: Tabitha Wilson

Her uncontrolled seizures have robbed Tabitha of the ability to live independently. "I can't drive. I can't cook. I can't go swimming alone. I can't take a bath, only a shower and if someone is home with me," says Tabitha.

Watch: Tabitha Wilson shares what it's like to live with drug-resistant epilepsy.

Tabitha turned to Mayo Clinic in Florida where she learned about a clinical trial also investigating the potential of regenerative medicine as a possible treatment for DRE.

Dr. Sanjeet S. Grewaldirector of stereotactic and functional neurosurgery at Mayo Clinic, is leading a team of researchers studying the use of implanted stem cells in conjunction with deep brain stimulation for patients like Tabitha.

Deep brain stimulation is one of the most recent FDA-approved methods of neuromodulation therapy for epilepsy. Studies show that patients who undergo deep brain stimulation experience median seizure reduction up to 70% after five years. However, Dr. Grewal says it is uncommon for patients to become seizure-free. 

"Unfortunately, neuromodulation doesn't give us the seizure freedom we want, and that's why we are trying to combine deep brain stimulation with stem cell therapy to see if we can increase the efficacy of neuromodulation," he says. 

Dr. Alfredo Quinones-Hinojosa (left), Dr. Sanjeet S. Grewal (right) and team performing stem cell implant at Mayo Clinic in Florida Photo courtesy: Dr. Loizos Michaelides

Tabitha became the first patient to undergo the investigational treatment. Dr. Grewal says she is also the first person in the world to undergo surgery for deep brain stimulation and receive stem cell therapy in the thalamus in her brain as a potential treatment for DRE. 

Watch: Dr. Sanjeet Grewal, neurosurgeon, explains how Mayo researchers are leading a new trend in research for treating patients with drug-resistant epilepsy.

The clinical trial involves the use of mesenchymal stem cells, a type of adult stem cell that has anti-inflammatory properties. MSCs may also support tissue repair and healing. Further scientific research is needed to confirm their therapeutic potential in the field of regenerative medicine.

"There are some patients whose seizures are just much harder to treat with the technology we have today. Our hope is that by adding stem cells and their regenerative potential, we can increase treatment success."

Dr. Sanjeet Grewal, Neurosurgeon and Clinical trial lead investigator

The MSCs used in the clinical trial are derived from fat tissue and created at the Human Cell Therapy Laboratory at Mayo Clinic in Jacksonville, Florida under the leadership of Abba Zubair, M.D., Ph.D., a pioneer in cell therapy.

Dr. Zubair's research teams have developed a cost-effective method of producing MSCs for use in potential treatments for conditions such as stroke.

Dr. Zubair has also led innovative research, including sending stem cells to the International Space Station to investigate how microgravity impacts their growth.

"My mission is to discover ways to address problems that patients have been struggling with and find a solution for them.
I believe the future is bright. "

Dr. Abba Zubair, Pioneer in Cell therapy, Mayo Clinic in Florida

Dr. Zubair has several research projects scheduled to launch into space in 2025.

"MSCs are what we call multipotent, meaning they can differentiate into different cell types based on where they're placed. If they are placed near blood vessels, they can become blood vessel types. If they're placed by heart cells, they can become heart cell types," explains Dr. Grewal.

The hope is the MSCs eventually become neural or brain cell types and interact in the part of the brain where the seizures occur. "It's called paracrine signaling, where they're releasing signals to the brain tissue around them and interacting in a way to try to repair that tissue."

"I'm willing to try everything and anything to get some sort of control over these seizures because I've been living with this for so long."

Tabitha Wilson, Clinical Trial participant

Since undergoing the procedure, there has been an improvement in Tabitha's seizure management. However, Dr. Grewal says it is too early to know whether this is due to the deep brain stimulation, stem cells or both. 

Drs. Grewal and Parker say there is still a long road ahead to determine whether these cell therapies are proven safe and effective for patients with DRE. But they agree each day brings them one step closer to a potential treatment or cure for patients like Tabitha and Anthony.

"We've thought about this for generations, we just didn't have these technologies to enable it. Now we do," says Dr. Grewal. "So, whether it's wound healing, neurodegeneration, epilepsy or stroke, there are so many different studies going on investigating the potential of regenerative or reparative therapies."


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Mayo Clinic researchers lead transformative shift toward neurorestorative treatment strategies for most severe forms of epilepsy https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-lead-transformative-shift-toward-neurorestorative-treatment-strategies-for-most-severe-forms-of-epilepsy/ Wed, 02 Apr 2025 15:36:10 +0000 https://newsnetwork.mayoclinic.org/?p=401472 Mayo Clinic is taking epilepsy research in a bold new direction, exploring treatment approaches to help patients living with the most severe and difficult-to-treat forms of epilepsy. About 50 million people worldwide are impacted by epilepsy. Approximately 30% of patients, or about 15 million people, suffer with drug-resistant epilepsy (DRE). While some patients experience only a few seizures per […]

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Mayo Clinic is taking epilepsy research in a bold new direction, exploring treatment approaches to help patients living with the most severe and difficult-to-treat forms of epilepsy. About 50 million people worldwide are impacted by epilepsy. Approximately 30% of patients, or about 15 million people, suffer with drug-resistant epilepsy (DRE). While some patients experience only a few seizures per month, others may endure hundreds each day — ranging from episodes that are mild to life-threatening. 

Current treatment options for patients with DRE include surgical procedures such as brain resection to remove a portion of the brain tissue responsible for generating seizures. A less invasive procedure involves laser ablation therapy that pinpoints and destroys abnormal brain tissue. While often effective, these surgical approaches carry the risk of possible side effects, such as memory impairment, motor deficits and speech difficulties. Neuromodulation is another surgical approach that uses electrical or magnetic stimulation to interrupt abnormal neural activity without removing brain tissue.

Now, a growing number of scientists across the globe are part of an innovative trend in research investigating novel ways to DRE. It involves the use of regenerative medicine as a "reparative" approach to help the brain heal. 

Neurosurgeon Jonathon J. Parker, M.D., Ph.D., is the lead investigator of the first-in-human clinical trial at Mayo Clinic studying the use of implanted specialized inhibitory brain cells as a potential reparative treatment for DRE. The clinical trial is underway at Mayo Clinic in Arizona.

"This is an exciting time for regenerative medicine and the potential it may have for millions of people who suffer from the debilitating side effects of DRE," says Dr. Parker. "We use a very minimally invasive technique where we inject the inhibitory cells through a pencil eraser-sized incision in the back of the head. Our hope is that, over time, these cells become part of the brain and help repair the neural circuitry, and reduce or prevent seizures without the side effects," says Dr. Parker.

Mayo Clinic in Arizona is one of 29 sites nationwide participating in the inhibitory brain cell implant clinical trial for patients with focal epilepsy, where seizures originate in a specific region of the brain. 

Arizona resident Anthony Maita was the first person at Mayo Clinic to participate in the clinical trial. He underwent the one-time, single-dose procedure and was discharged from the hospital the next day. "I had no trouble with it," says Anthony. "My biggest hope is that, one day, I don't have to deal with this. My other biggest hope is that other people won't have to either."

It is still too early to determine whether the brain cell implant was effective for Anthony. Doctors are monitoring his progress closely. "Anthony has been doing great since the procedure," says Amy Crepeau, M.D., neurologist at Mayo Clinic. "We have a great deal of optimism in regard to the potential of this brain cell therapy. Developing a safe and effective, minimally invasive treatment that does not carry the possible negative side effects could be a game changer in treating patients with DRE and improving their quality of life."

Another clinical trial is underway at Mayo Clinic in Florida investigating the potential of regenerative medicine as a reparative treatment for DRE. Researchers are exploring the use of implanted stem cells in conjunction with neuromodulation.

One of the most recent FDA-approved methods of neuromodulation therapy for epilepsy is deep brain stimulation. While patients who undergo deep brain stimulation experience median seizure reduction up to 70% after five years, it is uncommon for patients to become seizure-free. Sanjeet Grewal, M.D., director of stereotactic and functional neurosurgery at Mayo Clinic, is hoping to change that. "Unfortunately, neuromodulation doesn't give us the seizure freedom we want, and that's why we are trying to combine deep brain stimulation with stem cell therapy to see if we can increase the efficacy of neuromodulation," says Dr. Grewal. 

Dr. Grewal is the lead investigator of the clinical trial which involves the use of implanted adipose-derived mesenchymal stem cells (MSCs) as an adjunct to deep brain stimulation for DRE patients. MSCs are a special type of adult stem cell with anti-inflammatory properties that may also have potential for healing.

Many, like Dr. Grewal, hope MSCs will serve a pivotal role in the future of regenerative medicine to treat conditions like epilepsy. "There are some patients whose seizures are just much harder to treat with the technology we have today. Our hope is that by adding stem cells and their regenerative potential, we can increase treatment success," says Dr. Grewal.

The clinical trial is using MSCs derived from fat tissue and produced at the Human Cell Therapy Laboratory at Mayo Clinic in Florida under the leadership of Abba Zubair, M.D., Ph.D. His research teams have developed a cost-effective method of producing MSCs for use in potential treatments for conditions such as stroke and osteoporosis. "My mission is to discover ways to address problems that patients have been struggling with and find a solution for them. I want to give them hope," says Dr. Zubair. "I truly believe the future is bright."

"MSCs are what we call multipotent, meaning they can differentiate into different cell types based on where they're placed. If they are placed near blood vessels, they can become blood vessel types. If they're placed by heart cells, they can become heart cell types," explains Dr. Grewal. It is hoped the MSCs in Dr. Grewal's clinical trial will become neural or brain cell types and interact in the part of the brain where seizures occur. "It's called paracrine signaling, where they're releasing signals to the brain tissue around them and interacting in a way to try to repair that tissue."

Tabitha Wilson began having seizures at the age of 2. The Florida resident says her seizures were well controlled until her mid-20s when her medication stopped working. Tabitha tried numerous other medications and underwent three brain surgeries, none of which provided the relief she needed.

"There are days when I'll have two, three or four seizures, back-to-back," says Tabitha. "I fell down a flight of stairs. I've burned myself while cooking. I've completely blacked out and don’t know where I am." Like many people who have epilepsy, Tabitha says uncontrolled seizures have robbed her ability to live independently. "I can't drive, can't cook or swim alone. I can't take a bath, only a shower and someone has to be in the house," says Tabitha.

Tabitha became the first person to participate in the Florida clinical trial. Dr. Grewal says she is also the first person in the world to undergo surgery for deep brain stimulation and receive stem cell therapy in the thalamus in her brain as a potential treatment for DRE. "I'm willing to try everything and anything to get some sort of control over these seizures because I've been living with this for so long," says Tabitha. "I hope to be a mother someday."

Since the surgery, Dr. Grewal says there has been an improvement in Tabitha's seizure management. However, he says it is too early to know whether this is due to the deep brain stimulation, stem cells or both. 

Drs. Grewal and Parker say there is a long road ahead to determine whether these cell therapies are proven safe and effective for patients with DRE. But they agree each day brings them one step closer to a potential treatment or even a cure for patients like Tabitha and Anthony.

"We've thought about this for generations, we just didn't have these technologies to enable it. Now we do," says Dr. Grewal. "So, whether it's wound healing, neurodegeneration, epilepsy or stroke, there are so many different studies going on investigating the potential of regenerative or reparative therapies."

Press kit, including b-roll, photos and interviews, available here.

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About Mayo Clinic
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Mayo Clinic Minute: The difference in brain aneurysms https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-minute-the-difference-in-brain-aneurysms/ Mon, 31 Mar 2025 15:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=382222 Each year, nearly half a million people worldwide die from brain aneurysms. In the U.S., an estimated 6.7 million people have an unruptured brain aneurysm, which means about 1 in 50 people might have one. A brain aneurysm, also called a cerebral aneurysm, is a bulge or ballooning in a blood vessel in the brain. Dr. Chris Fox, a Mayo […]

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Each year, nearly half a million people worldwide die from brain aneurysms. In the U.S., an estimated 6.7 million people have an unruptured brain aneurysm, which means about 1 in 50 people might have one.

A brain aneurysm, also called a cerebral aneurysm, is a bulge or ballooning in a blood vessel in the brain. Dr. Chris Fox, a Mayo Clinic neurosurgeon, says there are two broad categories of aneurysms: ruptured aneurysms, which are neurosurgical emergencies, and unruptured aneurysms, where there is time to establish a treatment plan that may involve multiple options. 

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"For unruptured aneurysms, we have the ability to plan and make a decision on the best treatment upfront in a nonemergent situation," says Dr. Fox.

But when a brain aneurysm ruptures, prompt medical attention is required. 

medical Illustration of unruptured and ruptured brain aneurysm
Illustration shows a woman with an unruptured aneurysm. The inset shows the aneurysm before and after rupture.

"Typically, when we see a patient with a ruptured aneurysm, we treat it as quickly as possible. That's usually within a matter of hours because there's a risk that the aneurysm can rerupture," he says.

Symptoms

Symptoms of a ruptured aneurysm can include severe head pain, nausea, vomiting, confusion and loss of consciousness.

"The classic presentation for a ruptured aneurysm is a patient has the worst headache of their life," Dr. Fox says.

Brain aneurysms are more common in women, and there may be a genetic component because aneurysms can run in families.

"But smoking and hypertension are two of the biggest risk factors for causing an aneurysm or having an aneurysm form," says Dr. Fox.

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A clearer path through a difficult diagnosis https://newsnetwork.mayoclinic.org/discussion/a-clearer-path-through-a-difficult-diagnosis/ Fri, 28 Mar 2025 12:37:44 +0000 https://newsnetwork.mayoclinic.org/?p=401060 A surprising revelation When Joy Carol was at her lowest — confined to a New York City hospital bed, unable to move, and completely dependent on others to survive — she could feel herself slipping away. “I was this close to going over the edge,” Joy says. Before the illness struck, she was in constant […]

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A surprising revelation

When Joy Carol was at her lowest — confined to a New York City hospital bed, unable to move, and completely dependent on others to survive — she could feel herself slipping away.

“I was this close to going over the edge,” Joy says.

Before the illness struck, she was in constant motion. Her work as a teacher, social worker, preacher, and coordinator of international relief work required robust physicality. But within weeks of experiencing her first symptoms while on holiday in Greece, her life had come to a standstill. Her body would not cooperate, and she lost all ability to care for herself.

“I was a bag of bones that they lifted up in a wheelchair and rolled around places,” says Joy. “But I was still here.”

Joy’s care team tested her for a slate of neurodegenerative conditions, including Parkinson's disease and amyotrophic lateral sclerosis (ALS). But none of the tests run locally came back positive. As a last resort, a member of her local care team sent samples of Joy’s blood and cerebrospinal fluid (CSF) to Mayo Clinic Laboratories.

“Then Mayo Clinic came up with the diagnosis,” Joy says. “They said I had a very difficult to treat, impossible to cure, and perhaps fatal illness.”

Joy had developed paraneoplastic encephalomyelitis, a rare autoimmune neurological condition.

“The term paraneoplastic encephalomyelitis is actually kind of an umbrella term that's used to cover several different disorders that have been recognized based on the clinical syndrome,” says Dr. Kurt Jaeckle, emeritus professor of neurology at Mayo Clinic and Joy’s physician. “They’ve been put into different categories and some of them have been associated with specific antibodies that you can measure in the blood. And these are specific antibodies. In other words, they're different for each (condition).”

“Paraneoplastic neurologic disorders really speak to the remote effects of cancer,” says Dr. Andrew McKeon, co-director of the Clinical Neuroimmunology Laboratory. “This means that the immune response against the cancer, which is appropriate and desired, somehow develops an aberrancy and patients get self-reactive immunity, what we call autoimmunity against the nervous system. Typically, patients actually present with neurological problems, not with cancer.”  

The outward presentation of autoimmune neurologic disease can be diverse, and one of the manifestations is a phenomenon known as stiff person syndrome.

“Patients will present with stiffness in the lower extremities, with superimposed spasms often triggered by startle that can lead to falls with injury,” Dr. McKeon says.

Test results of patients suspected of having a paraneoplastic autoimmune disorder often clarify not only the specific autoimmune disease but also the cancer type.

In Joy’s case, an undiagnosed breast cancer propelled the misguided autoimmune response.

“We would've never looked for the cancer in her if it hadn't been for that antibody test that was done at Mayo Clinic,” Dr. Jaeckle says.

Joy was surprised to learn that breast cancer was the cause of the life-threatening neurological symptoms.

“Just a few months before I had paraneoplastic syndrome, I had my mammogram and an ultrasound,” Joy says. “They were normal, and my doctors said to come back in a year.”

The impact of antibodies

Some tumors, like that which affected Joy, contain certain proteins that resemble other proteins found in nerve cells, Dr. Jaeckle says.

“And the immune system’s killer T-cells that accompany the antibodies attacked the cancer, but also attacked the nervous system thinking it’s foreign,” Dr. Jaeckle adds.

As a result of the assault on her central nervous system, Joy developed stiff-person phenomena, a disorder resembling the stiff-man syndrome initially identified by Mayo Clinic neurologists in 1956.

“Mayo has over many years, since the mid-70s or so, developed a series of antibody panels that are directed at this kind of thing and pretty much canvas the waterfront in terms of the common antibodies that might be associated with nervous system conditions,” Dr. Jaeckle says.

The stiff-person and movement disorder evaluation that evaluated Joy’s blood and CSF identified two specific antibodies. The first was synaptic vesicle protein amphiphysin, or amphiphysin IgG. Amphiphysin was identified as one of several key biomarkers for paraneoplastic syndromes through pioneering Mayo Clinic-led research in 2005. In individuals with amphiphysin antibodies, cancer is identified in up to 80% of cases.

The second antibody identified in Joy’s sample was glutamic acid decarboxylase, or GAD, which is associated with stiff-person syndrome.

“GAD is present in 80% of people with this condition and rarely present, less than 5% of people, in the normal population,” Dr. Jaeckle says.

As scientific discovery about the association between antibodies and autoimmune disease continues to advance, more healthcare physicians and professionals understand their utility in diagnosing illness.

“What’s really given this momentum to this area is biomarkers and antibody tests,” Dr. McKeon says. “We know this and have been able to document this through epidemiology studies.”

For example, a recent epidemiology study conducted in Olmsted County, which is the home to Mayo Clinic in Rochester, Minnesota, compared the frequency of autoimmune encephalitis with the frequency of infectious encephalitis by looking at two separate time points.

“What was noticed with the more recent measurement was that autoimmune encephalitis had increased in incidents so much that it was now comparable to infectious encephalitis,” Dr. McKeon says. “In fact, it looked to be a little more common than infectious encephalitis. That’s purely down to recognition, purely down to the fact that doctors are now recognizing these diseases, know to test for them, and they’re getting back antibody test results. That is all through scientific discovery — that is all through science.”

Casting a light on the road ahead

The weight that lifted when Joy received an accurate diagnosis was a sharp contrast to the fear that permeated living in the unknown.

“I remember I just said ‘Hallelujah!’” Joy says. “I was so glad because we’d just been batting around with nothing on our plates — you can’t play a baseball game without the right equipment.”

Even in cases where the prognosis is poor, patients find incredible meaning in their diagnosis, Dr. McKeon says. “Patients will sometimes say, ‘Well, at least I now know what is going on. The diagnostic odyssey is over, and I can move onto the next stage of things.’”

For individuals who falsely believed themselves to have incurable neurogenerative conditions, the news that the disorder can be treated is sometimes overwhelming, Dr. McKeon adds. 

“There’s a lot of joy, a lot of hope, and we always have to temper that a little in terms of expectations because with the nervous system, particularly the central nervous system, nonprogression is the achievable goal. And we have to differentiate that from cure or complete cure, which we can accomplish in some patients. But for a lot of patients, the disease is something we treat, and they won’t progress further.”

The timing of diagnosis is also important for individuals with certain neuroimmunologic conditions.

“The earlier you can find it, the better. For most conditions, if you start treatment earlier, it is better,” Dr. Jaeckle says.

Understanding the reason for Joy’s physical decline and identification of the two antibodies that were causing her nervous system to malfunction helped Joy’s team develop a treatment strategy for her condition.

It was a relief for me to know I had something that they could try to treat, even though there wasn’t really a cure to this,” Joy says. “You don’t live very long with paraneoplastic syndrome if something isn’t happening with you, and without the diagnosis, there was no way of knowing how to treat me.

“I would say to everyone, if you don’t know what is wrong with you, don’t stop there. Ask your doctor to go to another doctor or get another opinion. Or ask them to go to the research labs or best of all go to Mayo Clinic.”

Check out the final episode of “Life of a Specimen” to learn how laboratory testing on Joy Carol’s blood and spinal cord fluid enabled treatment that changed her life.

This article first appeared on the Mayo Clinic Laboratories blog.

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Mayo Clinic Minute: What is vascular dementia? https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-minute-what-is-vascular-dementia/ Tue, 25 Mar 2025 15:12:22 +0000 https://newsnetwork.mayoclinic.org/?p=380634 An estimated 55 million people are believed to be living with dementia, according to health officials. Vascular diseases contribute to approximately 25% of all diagnoses. When blood vessels are damaged or blocked, it can deprive your brain of vital oxygen and nutrients, which could lead to a condition called vascular dementia. Watch: The Mayo Clinic […]

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An estimated 55 million people are believed to be living with dementia, according to health officials. Vascular diseases contribute to approximately 25% of all diagnoses.

When blood vessels are damaged or blocked, it can deprive your brain of vital oxygen and nutrients, which could lead to a condition called vascular dementia.

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"Vascular changes in the brain most often damage the axons — or cables — that connect different parts of the brain," says Dr. Stephen English, a Mayo Clinic neurologist. "Therefore, signals take longer to travel, so our brains are not working at full speed."

Dr. English says the signs of vascular dementia include problems with reasoning, planning, judgment, memory and other thought processes. Factors that increase the risk of heart disease and stroke also raise vascular dementia risk.

"High blood pressure, high cholesterol, diabetes, smoking, obesity and sleep apnea — these are the modifiable risk factors that, if untreated, can cause wear and tear on the small blood vessels in the brain over time," says Dr. English.

If you are at risk or show signs of vascular dementia, consult a neurologist.

"We can potentially augment some of these risk factors," says Dr. English. "Medications and lifestyle changes can lower blood pressure and cholesterol; we can treat sleep apnea with certain devices or surgeries; and we can help you stop smoking. These are some things that can reduce the risk of developing vascular dementia."

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Integration, innovation, precision: Propelling leading-edge diagnostics https://newsnetwork.mayoclinic.org/discussion/integration-innovation-precision-propelling-leading-edge-diagnostics/ Fri, 21 Mar 2025 12:35:11 +0000 https://newsnetwork.mayoclinic.org/?p=401009 Collaborating around patient need Underpinning innovation at Mayo Clinic Laboratories is a unique ecosystem of integration. A network of laboratory scientists and bedside physicians collaborates to translate scientific discoveries into real-world tools that save patients’ lives. “The clinician is limited when they don't have a good diagnostic test,” says Dr. John Mills, co-director of the […]

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Collaborating around patient need

Underpinning innovation at Mayo Clinic Laboratories is a unique ecosystem of integration. A network of laboratory scientists and bedside physicians collaborates to translate scientific discoveries into real-world tools that save patients’ lives.

“The clinician is limited when they don't have a good diagnostic test,” says Dr. John Mills, co-director of the Clinical Neuroimmunology Laboratory at Mayo Clinic. “There are many situations where clinically deciding if a patient has disease A or disease B is extremely challenging, and without lab tools to help them make those decisions, they can't provide the best care possible.”

At Mayo Clinic, the individuals developing tests in the Clinical Neuroimmunology Laboratory are a mix of laboratorians, clinicians, and doctors who perform both jobs.

“There is a sort of natural communication between the clinic because the individuals are the same ... and having that crossover really keeps that momentum going,” says Dr. Andrew McKeon, co-director of the Clinical Neuroimmunology Laboratory.

Treating patients with autoimmune neurological disorders in the clinic often reveals things not seen before, says Dr. McKeon, who is also a bedside physician. “And that will lead to research questions. Or you might see a test result that seems unusual, and that may lead to questions around whether there are things we can improve in the lab in terms of how we test for a particular antibody. Then, on the lab side, we may engage with an ordering clinician who has a question about an antibody and its significance that we just didn’t think of.”

The interaction between the lab and the practice is a key component of developing patient-centric laboratory testing, Dr. Mills adds. “It helps us identify areas for discovery, get access to samples, ask the right questions, develop the right tests, and really is the reason we're able to translate these discoveries before many other laboratories.”

Asking the right questions is central to Mayo Clinic Laboratories’ innovation strategy.

“The value of integration is that we’re always asking questions for patients: are we barking up the right tree, do we have the right test for that, do we have to create something new?” says William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories. “Sometimes the right questions can’t be answered. We realize that we don’t have the right tests to really evaluate for something. So that is what spurs the innovation.”

Harnessing the power of science

Since Mayo Clinic Laboratories was established in the early 1980s, neuroimmunology researchers have pushed the envelope on what is known about autoimmune neurological illness. Translation of discoveries into testing for autoimmune neurological disease was made possible with the creation of the Clinical Neuroimmunology Laboratory in 1989.

Since its founding, the lab has advanced the field by discovering antibodies associated with rare autoimmune neurological conditions, such as neuromyelitis optica, stiff person syndrome, myasthenia gravis, and paraneoplastic disorders. But there is more work to be done.

“The field of autoimmune neurology is really still in its early stages,” Dr. Mills says. “New novel biomarkers are discovered almost on a monthly basis. And so that really impacts how the lab operates — there's always new tests and new analytes to offer.”

In the Clinical Neuroimmunology Laboratory, physicians and scientists have discovered and are on constant lookout for new antibodies. When new, relevant antibodies are identified, the discoveries are quickly implemented into assays, Dr. Mills says. 

“We try to implement the new tests at the same time as the field evolves,” Dr. Mills adds. “The main driver for that is once we’ve discovered a test that has a clinical utility that we know can help patients, we want to get it to them as soon as possible.”

At present, of the 30-plus antibodies the neuroimmunology lab has tests for, more than five are only available at Mayo Clinic Laboratories because they are new or rare discoveries, Dr. Mills adds. Since newly discovered antibodies are continually added to the lab’s portfolio of autoimmune testing conditions, the lab’s testing is the most comprehensive available.

“That's something we pride ourselves on, is to constantly be at the forefront providing these novel antibodies as soon as we can, once they've been clinically validated. And that really has driven the field forward,” Dr. Mills says.

Changing lives with advanced and esoteric tools

The autoimmune movement disorders panel is an example of an assay that has evolved to align with changing science. Launched in the early 2000s, the test looks for more than 20 antibodies associated with autoimmune illnesses that impact an individual’s ability to move. Autoimmune movement disorders and phenomena can occur suddenly or slowly, and involve dizziness, numbness, tingling, pain, muscle seizing, joint stiffness, and other problems. They have differing causes, including cancer, and varying prognosis and treatment options.

Detection of antibody biomarkers provides insights that direct individualized treatment protocols aligned with symptom severity, type of antibody discovered, and the presence or absence of cancer.

The movement disorders test uses a number of methodologies to evaluate for the antibodies, including cell-binding assay, indirect immunofluorescence assay, radioimmunoassay, Western blot, and immunoblot.

When patient samples arrive in the laboratory, they are transferred onto slides that contain different types of mouse control tissues, including brain, kidney, and gut. After the slides have incubated, they are viewed under an immunofluorescence microscope by clinical laboratory technicians.

“As part of our training, we memorize a variety of tissue staining patterns that signify which antibody a patient might have,” says clinical laboratory technician Steven Brady. “If a positive result is suspected, it is moved to the consultants and lab directors for further review.”

“When these patients develop their autoantibodies, they cannot move, they are bedridden and can’t function day to day and their lives have completely changed,” Brady says. “And we can help provide them an answer and a path forward to get them back into their normal life. It’s amazing to see the work that we’re doing can actually recover somebody’s life and put them back into society, back with their family, back doing what they love to do.”

The Mayo Clinic values, which include healing, teamwork, innovation, excellence, stewardship, integrity, and respect, are exemplified by Mayo Clinic Laboratories, says Dr. McKeon.

“For me, there's really no difference between what's done through Mayo Clinical Laboratories and what's done in the clinic itself,” Dr. McKeon says. “Patients who receive testing through Mayo Clinic Laboratories really get the very best care, including for neurology. Patients are getting the most up-to-date, the most cutting-edge, but also well-validated tests for autoimmune neurology available.”

Learn more about Autoimmune Neurology Testing at Mayo Clinic Laboratories.

Check out the next installment of “Life of a Specimen,” where we learn how antibody clues in one patient’s blood and spinal cord fluid pinpointed a diagnosis and opened a door to treatment.

This article firs appeared on the Mayo Clinic Laboratories blog.

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New test distinguishes between prion disease and other causes of rapidly progressive dementia https://newsnetwork.mayoclinic.org/discussion/new-test-distinguishes-between-prion-disease-and-other-causes-of-rapidly-progressive-dementia/ Thu, 06 Mar 2025 16:48:37 +0000 https://newsnetwork.mayoclinic.org/?p=400552 In May of 2024, Mayo Clinic launched a new prion test, RT-QuIC Prion, CSF, which can distinguish prion disease from other causes of rapidly progressive dementia — particularly autoimmune forms of dementia and rapidly progressive forms of Alzheimer's disease. “Rapidly progressive dementias are forms of dementia where the patient goes from the first symptom onset […]

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In May of 2024, Mayo Clinic launched a new prion test, RT-QuIC Prion, CSF, which can distinguish prion disease from other causes of rapidly progressive dementia — particularly autoimmune forms of dementia and rapidly progressive forms of Alzheimer's disease.

“Rapidly progressive dementias are forms of dementia where the patient goes from the first symptom onset to loss of functional independence, usually in less than two years,” says John Mills, Ph.D., co-director of Mayo Clinic’s Clinical Neuroimmunology Laboratory.

In the early stages of rapidly progressive dementias, patients often exhibit nonspecific symptoms that make reaching a definitive diagnosis challenging. However, it’s crucial to identify the correct cause as soon as possible, because some forms — such as those driven by autoimmune processes — may be treatable, while others are not.

John Mills, Ph.D., co-director of the Clinical Neuroimmunology Laboratory at Mayo Clinic

“It's really important to be able to give the patient a quick diagnosis and an accurate diagnosis,” says Dr. Mills. “Because if it's treatable, you're going to want to treat right away.”

Human prion disease, also called Creutzfeldt-Jakob disease (CJD), results from the misfolding of a normal prion protein — an essential protein present in everyone. The misfolded form of the protein, the cause of CJD, can emerge due to an underlying genetic mutation that predisposes the protein to misfold or spontaneous errors in protein folding. The misfolded protein can trigger a self-perpetuating cycle by causing correctly folded prion proteins to adopt the pathogenic form. Over time, this process leads to the death of neurons. Unfortunately, there is no cure.

Until recently, lab testing for CJD has been limited to nonspecific neuronal degeneration markers. These tests can detect and confirm rapid destruction of the brain tissues is occurring, but they cannot confidently tell clinicians the underlying cause. With the development of an RT-QuIC (or “real-time quaking-induced conversion”) assay for prion disease, clinicians were able to, for the first time, get a diagnostic test result specific for prion disease with very high diagnostic accuracy. Before this test was available, it wouldn’t be until an autopsy was complete that the cause could be confidently identified.

Making a dangerous agent safe to work with

RT-QuIC Prion, CSF (cerebral spinal fluid) is the only definitive antemortem clinical test of its kind that doesn’t involve a brain biopsy.

“A lot of the labs that originally did this testing started with brain homogenates, and so when you talk about directly working with brain tissues, there’s a clear risk of transmission in instances of needlesticks, for instance,” says Dr. Mills.

Ellen Lexvold, M.S., technical specialist coordinator in the Department of Laboratory Medicine and Pathology at Mayo Clinic

Fortunately, RT-QuIC for prion disease was proven sensitive using CSF specimens, which is a low-risk specimen and can be manipulated in a standard clinical laboratory that operates at biosafety level 2 (BSL-2). But to ensure an additional layer of safety, the goal at Mayo Clinic was to perform this testing in a BSL-2+ laboratory, which meant a special lab space had to be built from the ground up.

“Creating the right space for this test was a tricky bit of doing,” says Ellen Lexvold, technical specialist coordinator in the Neuroimmunology Lab, who helped build out the new test lab. “It was like building an airplane as you’re flying it. We had to tailor the workflow to special considerations, like engineered safety controls, seamless floor tiles, corrosion-resistant steel tables (bleach is one of the few substances that can inactivate pathogenic prion proteins), negative pressure airflow, and a lock-restricted area.” 

Grizzly bear country

Prion testing is so unique that, prior to Mayo’s development of the RT-QuIC clinical assay, there was only one other lab in the U.S. offering the test and only a handful of laboratories performing the test worldwide.

The birthplace of RT-QuIC is Rocky Mountain Laboratories (RML), a research facility situated in the tiny Montana town of Hamilton, wedged between the Bitterroot and Sapphire Mountain ranges on a picturesque landscape.

“In 2010, the RML reported the use of a test called RT-QuIC in a landmark paper,” says Dr. Mills. “They demonstrated how this assay was able to detect very small amounts of pathogenic prion protein, and they could amplify those prion proteins, in vitro, and detect them with very high sensitivity. This was the first time an assay that was specific to prion disease had enough sensitivity to be considered as a potential diagnostic test for prion disease.”

Matt Roforth, a senior developer for the Department of Laboratory Medicine and Pathology at Mayo Clinic, runs his first RT-QuIC assay at RML.

In 2018, Dr. Mills, Lexvold, and Matt Roforth, a senior developer for Mayo Clinic’s Department of Laboratory Medicine and Pathology, traveled to Hamilton to learn how to perform the test. The team spent a week at RML, which, because of its research specialization in vector-borne diseases and emerging infectious diseases, is one of the few labs in the U.S. that has a BSL-4 rating, a requirement to house things like Ebola. RML is a National Institutes of Health (NIH) biomedical research facility.

“The facility is encircled in barbed-wire fencing, security gates, and before you can enter you have to have a background check,” says Dr. Mills. “Every morning when we walked in, we had to go through a security checkpoint. They inspect your belongings, you walk through a metal detector. There was very tight security for good reason as it houses highly contagious, dangerous pathogens.”

RML is quite particular about the use of the RT-QuIC technology and will only teach it onsite. Dr. Mills continues, “They want to know that whoever is doing the testing is doing it right. They walk you through their protocols, they want to watch you perform some of the testing so they’re sure you know how to do it.”     

Right out of a movie

During the mornings and early afternoons at RML, the team learned cutting-edge technologies and established connections that would help them launch this test at Mayo. “Then there wasn’t much to do with our free time,” says Dr. Mills. “So we’d go hiking up the Bitterroot Mountains to check things out.”

They also often ended up at a local diner, where everyone knew everyone and the owner doubled as the cook. The whole experience was “right out of a movie,” according to Dr. Mills. In fact, parts of the TV series “Yellowstone” were filmed in Hamilton and the surrounding area. Dr. Mills also recounts, “We met some renowned and well-regarded researchers who moved to Hamilton to work at RML, often from around the world. Not exactly the type of people you’d expect to be handy with a shotgun, but they had bears and all sorts of wild animals coming into their homes.”

When the team returned to Rochester, they had to wait for a new lab space to be built before they could develop the test — a space they coined the “Bitterroot Lab” in honor of their Montana experience. It took more than two years (thanks to the pandemic interruption) to develop a clinically validated version of the prion test.

Ellen Lexvold, technical specialist coordinator, enjoys a hike in the Bitterroot Mountains near Hamilton, Montana.

“We had to take something that was really meant for research and we had to update it, we had to scale it up to keep pace with the throughput workflow of a clinical space,” says Lexvold.

“At the Rocky Mountain Labs, everything is done manually. So somebody is directly pipetting the sample. They’re adding their agents into each well. It’s a very manual assay. We did something different. We looked at different robotic, automated instrumentation that we maybe could use to do all that pipetting so it didn’t have to be manual.”

Dr. Mills adds, “We wanted a system that was small so that it could actually fit into a biosafety cabinet because we didn’t want those samples being manipulated and mixed with all the reagents outside of the biosafety cabinet. So that was a challenge. But our lab staff really stepped up and embraced the challenge and believed in the vision of offering the test at Mayo Clinic.”

Staff worked with a vendor that had a piece of equipment with a small footprint that, after some modifications, would work inside of a biosafety cabinet.

Jack Wu, Ph.D., now a clinical chemistry fellow, developed and validated the test. “Basically, you take the patient’s CSF, mix it with a recombinant substrate prion protein that was made in-house at Mayo Clinic, and a fluorescent dye that labels the protein aggregates generated in the reaction,” he says. “You incubate this plate at a temperature of 55 degrees Celsius while shaking it with certain reagents. It measures for the fluorescence every 45 minutes and does this for 36 hours. 

“The most critical component of this test is the production of high-quality substrate proteins, which sets the basis for the assay’s superior performance in detecting some rare subtypes of human prion diseases. The RT-QuIC methodology is the first of its kind at Mayo.”

Turnaround time for a test result is less than a week, which is no small feat considering how specialized the RT-QuIC is. “The laughing joke was that RT-QuIC wasn’t so quick,” says Dr. Mills. “But I think we are changing attitudes about this.”

A definitive answer in place of a cure

Part of the reason Mayo went through all this trouble to get this test is, heretofore, there was only one other lab in the U.S. that performed a clinical version of the test: The National Prion Disease Pathology Surveillance Center (NPDPSC), a lab in Cleveland, Ohio, also trained by RML. The NPDPSC was founded by the CDC as a result of the mad cow disease scare, that happened many years ago, to monitor this disease threat in the future.

“The problem is they’re not a traditional reference lab,” says Dr. Mills. “They offer a prion test, but one of our concerns was that their turnaround time (for a test result) is long. They’re not operating in the normal reference lab industry standards where you have 24/7 lab coverage including holidays.  We knew we could provide a faster turnaround time, innovate around the technology, and increase accessibility of this testing through Mayo Clinic Laboratories.”

Dr. Mills continues, “In addition, Mayo Clinic strives to offer a one-stop shop for diagnostic testing. This test fits in nicely with that philosophy. Our patients were waiting a long time for diagnostic answers. And having to wait has a huge impact on them and their family.”         

Now, patients showing symptoms of a rapidly progressive form of dementia can get a definitive answer, quickly, with a highly sensitive test. This small comfort is what drove Mayo Clinic to send a team to Montana, build an entirely new lab space, and automate a complex research test for clinical use. “There was a lot of heavy lifting that had to happen in the clinical lab, because this test is very unique from everything else we do,” says Dr. Mills. “But Mayo Clinic and our people have a history of supporting complex projects, even when they seem daunting to do, especially if there is an opportunity to improve patient care.”

This article first published on the Mayo Clinic Laboratories blog.

The post New test distinguishes between prion disease and other causes of rapidly progressive dementia appeared first on Mayo Clinic News Network.

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VIDEO: Making surgery for meningiomas safer with advanced technology https://newsnetwork.mayoclinic.org/discussion/video-making-surgery-for-meningiomas-safer-with-advanced-technology/ Tue, 04 Mar 2025 16:17:02 +0000 https://newsnetwork.mayoclinic.org/?p=399858 Treatment for meningiomas, the most common type of brain tumor, is now safer thanks to technological advancements. At Mayo Clinic, navigation tools and precision imaging help surgeons operate with greater accuracy, improving patient outcomes. Dr. Victoria Clark, a Mayo Clinic neurosurgeon and researcher, focuses on finding better treatments for patients with meningiomas, now and in […]

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Treatment for meningiomas, the most common type of brain tumor, is now safer thanks to technological advancements. At Mayo Clinic, navigation tools and precision imaging help surgeons operate with greater accuracy, improving patient outcomes.

Dr. Victoria Clark, a Mayo Clinic neurosurgeon and researcher, focuses on finding better treatments for patients with meningiomas, now and in the future. 

Watch: The Mayo Clinic Minute

Journalists: Broadcast-quality video (1:25) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

Meningiomas are usually noncancerous tumors that form in the membranes surrounding the brain. It may sound strange, but some of these tumors may not need treatment.

"But for the ones that grow or for the ones that cause symptoms, they do require treatment, which is either surgery and/or radiation," says Dr. Clark.

The goal of the surgery is to take out as much of the tumor as possible.

"Meningiomas have this tendency to enwrap very critical structures, like the types of nerves that control sight or control hearing, facial expression, and also encircle around critical blood vessels," she says.

Better tools allow for better outcomes.

"We have what's called navigation. So that allows us to use a pre-op MRI, sort of a GPS for the brain, to know exactly where the tumor is in relationship to the structures that we're trying to preserve and avoid," says Dr. Clark.

Advanced imaging tools used in the operating room help ensure surgeons remove all the tumor.

"Brain surgery is much safer with all of these wonderful new technologies," she says.

Research

While these advancements help patients now, Dr. Clark is looking to the future.

Dr. Victoria Clark, neurosurgeon, in her research lab, looking through a microscope
Dr. Victoria Clark in her research lab

"My hope is that the research that we will do will create new medical treatments that can be used in combination with the surgeries and radiation that are currently available in order to improve the treatment for patients with meningiomas," says Dr. Clark.

The post VIDEO: Making surgery for meningiomas safer with advanced technology appeared first on Mayo Clinic News Network.

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