Neurosciences - Mayo Clinic News Network https://newsnetwork.mayoclinic.org/category/neurosciences/ News Resources Tue, 08 Jul 2025 13:07:08 +0000 en-US hourly 1 https://wordpress.org/?v=6.8.1 How a Mayo Clinic neurologist used AI to help restore a patient’s health https://newsnetwork.mayoclinic.org/discussion/how-mayo-clinics-ai-helped-a-neurologist-give-a-patient-his-life-back/ Mon, 30 Jun 2025 10:30:00 +0000 https://newsnetwork.mayoclinic.org/?p=403848 Just one day after undergoing brain shunt surgery at Mayo Clinic, 75-year-old Minoo Press put his wheelchair aside and walked out of the hospital on his own. For the first time in two years, his mind was clear. His balance had returned. He was no longer losing control of his bladder.  The significant turnaround followed […]

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Minoo Press (right) and his wife, Zarin Press. Photo courtesy of Minoo Press

Just one day after undergoing brain shunt surgery at Mayo Clinic, 75-year-old Minoo Press put his wheelchair aside and walked out of the hospital on his own. For the first time in two years, his mind was clear. His balance had returned. He was no longer losing control of his bladder. 

The significant turnaround followed two years of steady cognitive and physical decline. A retired engineer known for his sharp mind and independence, Press gradually withdrew from daily life. Even simple routines became impossible. 

He visited leading medical centers across the country, undergoing spinal taps, surgical procedures and advanced imaging to evaluate for conditions ranging from Alzheimer's disease to Parkinson's. 

Some clinicians at those institutions also considered normal pressure hydrocephalus, a condition in which excess fluid builds up in the brain. But because Mr. Press' symptoms overlapped with signs of neurodegenerative disease, the doctors could not confirm the diagnosis or recommend surgery. They told him there was nothing more they could do. 

From rapid diagnosis to life-changing care

After an exhaustive search for answers, Press' family brought him to Mayo Clinic where he was evaluated by Dr. David Jones, a neurologist and director of Mayo Clinic's Neurology Artificial Intelligence Program.   

Minoo Press (center) is pictured with his sons, Carl and Cyrus, and his wife, Zarin, before undergoing a stent procedure at Mayo Clinic. At the time, he was unable to walk and used a wheelchair. Photo courtesy of Minoo Press

Dr. Jones used an innovative artificial intelligence tool developed by his team, called StateViewer. The tool works with a widely available brain scan known as fluorodeoxyglucose positron emission tomography, or FDG-PET, comparing a patient's brain activity to thousands of confirmed dementia cases. It highlights patterns linked to nine types of the disease — from Alzheimer's and frontotemporal dementia to less common forms with overlapping symptoms. 

In a recent study published in Neurology, the tool identified the correct dementia type in 88% of cases and helped clinicians interpret scans up to three times more accurately and twice as fast as standard methods.  

In Press' case, the tool helped Dr. Jones rule out Alzheimer's and other types of dementia. That was the turning point.  

With neurodegenerative disease ruled out, Dr. Jones diagnosed Press with normal pressure hydrocephalus and confirmed that he was a candidate for a shunt procedure to relieve the pressure on his brain and potentially reverse the symptoms.  

A last-minute surgical cancellation made it possible for Press to have the procedure that same week.

Within three days at Mayo Clinic, he had a clear diagnosis, a treatment plan and underwent brain surgery to place a shunt that would drain excess fluid from his brain. The procedure was performed by Dr. Ben Elder, a neurosurgeon and clinician-scientist.  

Press, who traveled from Chicago, noticed immediate improvements. His thinking was sharper, his steps steadier and he felt like himself again. 

A clear mind, steady steps and hope

Dr. Jones says Press' case highlights the promise of combining AI with clinical care to accelerate diagnosis, scale expert clinical knowledge and help guide treatment planning.  

"When you're looking at overlapping symptoms, it's easy to miss the underlying cause," Dr. Jones says. "StateViewer gave us the clarity we needed to make an informed diagnosis and take action." 

Press continues physical therapy and says he's improving every day. He hopes his story can help others who are navigating the same often misdiagnosed and debilitating condition. 

"I can enjoy time with my family again and I can go out with my friends. I can even do my own taxes. These are the moments I thought I had lost forever," Mr. Press says. "Mayo Clinic gave me my life back." 

Related article:

Mayo Clinic's AI tool identifies 9 dementia types, including Alzheimer's, with one scan

Mayo Clinic researchers have developed a new artificial intelligence (AI) tool that helps clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using a single, widely available scan — a transformative advance in early, accurate diagnosis. Read more.

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Mayo Clinic’s AI tool identifies 9 dementia types, including Alzheimer’s, with one scan  https://newsnetwork.mayoclinic.org/discussion/mayo-clinics-ai-tool-identifies-9-dementia-types-including-alzheimers-with-one-scan/ Fri, 27 Jun 2025 20:10:00 +0000 https://newsnetwork.mayoclinic.org/?p=403846 ROCHESTER, Minn. — Mayo Clinic researchers have developed a new artificial intelligence (AI) tool that helps clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using a single, widely available scan — a transformative advance in early, accurate diagnosis.  The tool, StateViewer, helped researchers identify the dementia type in 88% […]

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Dr. David Jones reviews brain scans on a computer at Mayo Clinic.

ROCHESTER, Minn. — Mayo Clinic researchers have developed a new artificial intelligence (AI) tool that helps clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using a single, widely available scan — a transformative advance in early, accurate diagnosis. 

The tool, StateViewer, helped researchers identify the dementia type in 88% of cases, according to research published online on June 27, 2025, in Neurology, the medical journal of the American Academy of Neurology. It also enabled clinicians to interpret brain scans nearly twice as fast and with up to three times greater accuracy than standard workflows. Researchers trained and tested the AI on more than 3,600 scans, including images from patients with dementia and people without cognitive impairment. 

This innovation addresses a core challenge in dementia care: identifying the disease early and precisely, even when multiple conditions are present. As new treatments emerge, timely diagnosis helps match patients with the most appropriate care when it can have the greatest impact. The tool could bring advanced diagnostic support to clinics that lack neurology expertise. 

The rising toll of dementia 

Dementia affects more than 55 million people worldwide, with nearly 10 million new cases each year. Alzheimer's disease, the most common form, is now the fifth-leading cause of death globally. Diagnosing dementia typically requires cognitive tests, blood draws, imaging, clinical interviews and specialist referrals. Even with extensive testing, distinguishing conditions such as Alzheimer's, Lewy body dementia and frontotemporal dementia remains challenging, including for highly experienced specialists. 

StateViewer was developed under the direction of David Jones, M.D., a Mayo Clinic neurologist and director of the Mayo Clinic Neurology Artificial Intelligence Program.  

"Every patient who walks into my clinic carries a unique story shaped by the brain's complexity," Dr. Jones says. "That complexity drew me to neurology and continues to drive my commitment to clearer answers. StateViewer reflects that commitment — a step toward earlier understanding, more precise treatment and, one day, changing the course of these diseases." 

To bring that vision to life, Dr. Jones worked alongside Leland Barnard, Ph.D., a data scientist who leads the AI engineering behind StateViewer. 

"As we were designing StateViewer, we never lost sight of the fact that behind every data point and brain scan was a person facing a difficult diagnosis and urgent questions," Dr. Barnard says. "Seeing how this tool could assist physicians with real-time, precise insights and guidance highlights the potential of machine learning for clinical medicine." 

Turning brain patterns into clinical insight 

The tool analyzes a fluorodeoxyglucose positron emission tomography (FDG-PET) scan, which shows how the brain uses glucose for energy. It then compares the scan to a large database of scans from people with confirmed dementia diagnoses and identifies patterns that match specific types, or combinations, of dementia. 

Alzheimer's typically affects memory and processing regions, Lewy body dementia involves areas tied to attention and movement, and frontotemporal dementia alters regions responsible for language and behavior. StateViewer displays these patterns through color-coded brain maps that highlight key areas of brain activity, giving all clinicians, even those without neurology training, a visual explanation of what the AI sees and how it supports the diagnosis. 

Mayo Clinic researchers plan to expand the tool's use and will continue evaluating its performance in a variety of clinical settings. 

For a complete list of authors, disclosures and funding, review the study.

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About Mayo Clinic 
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news. 

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Tomorrow’s Cure: New discoveries reshape Alzheimer’s disease detection https://newsnetwork.mayoclinic.org/discussion/tomorrows-cure-new-discoveries-reshape-alzheimers-disease-detection/ Wed, 25 Jun 2025 12:25:16 +0000 https://newsnetwork.mayoclinic.org/?p=403839 Tomorrow's Cure is back for season three. In recognition of Alzheimer's and Brain Awareness Month, the episode highlights one of the most devastating and complex diagnoses, impacting patients, families, and caregivers alike. With cases on the rise globally, the urgency to better understand, detect and treat this complex brain disorder has never been greater.  The podcast […]

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Graphic for Tomorrow's Cure episode 1, season 3, Alzheimer's

Tomorrow's Cure is back for season three. In recognition of Alzheimer's and Brain Awareness Month, the episode highlights one of the most devastating and complex diagnoses, impacting patients, families, and caregivers alike. With cases on the rise globally, the urgency to better understand, detect and treat this complex brain disorder has never been greater. 

The podcast episode features insights from Dr. Vijay Shah, executive dean of Research at Mayo Clinic; Heidi Dieter, chief research officer at Mayo Clinic; and Amy Goldman, CEO and chair of GHR Foundation. Together, they discuss the latest breakthroughs in Alzheimer's disease research and their potential for prevention, early diagnosis and future treatment strategies.

A major focus of today's research is identifying Alzheimer's earlier, even before symptoms appear. Early diagnosis allows for preventive interventions that may slow or even stop disease progression. Dieter shares the long-term vision of Alzheimer's research, "The long-term goals are to develop tools that help predict and prevent cognitive decline in dementia — also, developing risk prediction models for cognitive impairment."

Watch: New discoveries reshape Alzheimer's disease detection

Researchers are exploring innovative diagnostic tools, including blood tests, genetic screening and even voice analysis. These emerging methods are generating excitement among researchers for their potential to detect Alzheimer's earlier and more efficiently.

"The understanding of Alzheimer's has evolved over the last two decades from being something that wasn't able to be diagnosed until someone had passed away and had an autopsy, to now a diagnostic potential," Goldman says.

One of the most promising and scalable developments is voice-based detection. Researchers have found that subtle changes in a person's voice may appear well before traditional cognitive symptoms emerge.

"Depending on the day and how you're feeling, your voice sounds different," says Dr. Shah. "If you are starting to have mild cognitive impairment, your voice is going to start sounding different. 

"As an individual, it may not be useful, but when we take voice recordings from millions and millions of people and put them into an AI model, it allows us to identify changes in voice that are predictive of mild cognitive impairment. That's the type of biomarker we can scale."

Don't miss this conversation on the evolving science of Alzheimer's disease and the innovative efforts that may one day change its trajectory. Listen to the latest episode of Tomorrow's Cure, and explore the full library of episodes and guests at tomorrowscure.com.

Related stories:

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Mayo Clinic researchers validate blood test to diagnose Alzheimer’s disease in outpatient memory clinics https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-validate-blood-test-to-diagnose-alzheimers-disease-in-outpatient-memory-clinics/ Fri, 06 Jun 2025 11:05:00 +0000 https://newsnetwork.mayoclinic.org/?p=403324 JACKSONVILLE, Fla. — Alzheimer's disease, marked by memory loss, trouble concentrating and thinking, and changes in personality and behavior, devastates patients, their families and loved ones. With new treatments available for people with early signs of Alzheimer's disease, there is a growing need for accessible and cost-effective tests to diagnose Alzheimer's disease sooner. In a new […]

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Photo of aging hands. Getty Images

JACKSONVILLE, Fla. — Alzheimer's disease, marked by memory loss, trouble concentrating and thinking, and changes in personality and behavior, devastates patients, their families and loved ones. With new treatments available for people with early signs of Alzheimer's disease, there is a growing need for accessible and cost-effective tests to diagnose Alzheimer's disease sooner. In a new study, Mayo Clinic researchers confirmed the accuracy of an FDA-approved blood test that can be used at outpatient memory clinics to diagnose the disease in patients with a range of cognitive impairment. The findings are published in Alzheimer's and Dementia: The Journal of the Alzheimer's Association.

Standard ways of measuring the buildup of toxic proteins in the brain that indicate Alzheimer's disease include positron emission tomography, or PET scans, and spinal taps. But these tests can be expensive and invasive. More accessible, non-invasive and cost-effective biomarkers — measurable indicators of a disease — are needed to improve diagnoses broadly in clinical settings. 

Portrait of Gregg Day, M.D.. He says Mayo Clinic researchers validate blood test to diagnose Alzheimer's disease in outpatient memory clinics

"Our study found that blood testing affirmed the diagnosis of Alzheimer's disease with 95% sensitivity and 82% specificity,” says corresponding author Gregg Day, M.D., a Mayo Clinic neurologist, dementia specialist and clinical researcher. "When performed in the outpatient clinical setting, this is similar to the accuracy of cerebrospinal fluid biomarkers of the disease and is much more convenient and cost-effective."

The research team says their findings show promise in:

  • Better identifying research participants with Alzheimer's disease brain changes.
  • Screening and selecting patients with Alzheimer's disease for clinical trials.
  • Assessing how patients respond to therapy in clinical trials.

More than 500 patients receiving treatment for a range of memory issues at the outpatient Memory Disorder Clinic at Mayo Clinic in Florida participated in the study. They included patients with early- and late-onset cognitive impairment, typical and atypical Alzheimer's disease, Lewy body dementia and vascular cognitive impairment. 

Patients ranged from 32 to 89 years old, with the average age of symptom onset being 66. Alzheimer's disease was determined to be the underlying cause of the symptoms in 56% of the patients. The team also conducted serum tests to measure kidney disease, which can influence plasma biomarker concentrations. 

Mayo Clinic Laboratories tested for two proteins in blood plasma that are associated with amyloid plaque buildup, the hallmark of Alzheimer's disease: Aβ42/40 and p-tau217. The researchers found that p-tau217 levels were higher in patients with Alzheimer's disease versus those without the disease. Higher plasma p-tau217 concentrations were also associated with impaired kidney function, which researchers say should be taken into account when performing the blood test. 

Plasma p-tau217 concentrations were positive in 267 out of 509 patients, including 233 of 246 patients (95%) with cognitive impairment attributed to Alzheimer's disease.

The study was featured at the American Academy of Neurology Annual Meeting in April. 

In a previous study, researchers from the Mayo Clinic Laboratories team showed the utility of these blood tests compared to amyloid PET scans in research participants. 

Dr. Day says the next steps in this research are to evaluate blood-based testing in more diverse patient populations and people with early Alzheimer's disease who show no cognitive symptoms. The team also wants to evaluate disease-specific factors that may alter biomarker accuracy in clinical trials.

Other Mayo Clinic authors include Yoav Piura, M.D., Christian Lachner, M.D., Joshua Bornhorst, Ph.D., Alicia Algeciras Schimnich, Ph.D., and Neill Graff-Radford, M.D. For a full list of authors, funding and disclosures, see the paper.

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news. 

Media contact:

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Recovering from a stroke https://newsnetwork.mayoclinic.org/discussion/recovering-from-a-stroke/ Tue, 27 May 2025 12:12:39 +0000 https://newsnetwork.mayoclinic.org/?p=402909 Editors Note: May is National Stroke Awareness Month. Stroke is one of the leading causes of death in the U.S. and a major cause of serious disability for adults. More than 795,000 people in the U.S. have a stroke each year. Risk increases with age, especially after 55, but strokes can occur at any age. […]

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Elderly man receiving physical therapy

Editors Note: May is National Stroke Awareness Month.

Stroke is one of the leading causes of death in the U.S. and a major cause of serious disability for adults. More than 795,000 people in the U.S. have a stroke each year. Risk increases with age, especially after 55, but strokes can occur at any age.

Recovering from a stroke varies from person to person, says Dr. Felix Chukwudelunzu, M.D., a neurologist at Mayo Clinic Health System in Eau Claire, Wisconsin. The rate of recovery is generally greatest in the weeks and months after a stroke. However, there is evidence that performance can improve even 12 to 18 months after a stroke.

What is a stroke?

A stroke occurs when the blood supply to part of your brain is interrupted or reduced, preventing brain tissue from getting oxygen and nutrients. Brain cells begin to die in minutes,

A stroke is a medical emergency, and prompt treatment is crucial. Early action can reduce brain damage and other complications. 

Learn to detect a stroke FAST, graphic

Symptoms

It is important to be aware of stroke signs and symptoms so you can act quickly and seek necessary treatment. Symptoms of stroke include:

  • Sudden numbness or weakness of the face, arm or leg, especially on one side of the body.
  • Sudden confusion, trouble speaking or understanding.
  • Sudden trouble seeing or blurred vision in one or both eyes.
  • Sudden trouble walking, dizziness, loss of balance or coordination.
  • Sudden severe headache with no known cause.

If you or someone you know is experiencing a stroke, you should call 911 and seek emergency medical care right away.

A stroke can cause temporary or permanent disabilities, depending on how long the brain lacks blood flow and which part was affected. Complications can include paralysis or loss of muscle movement, difficulty talking or swallowing, memory loss or thinking difficulties, emotional problems, pain, and changes in behavior and self-care ability.

Rehabilitation

Stroke rehabilitation is an important part of recovery after stroke. There are many approaches to stroke rehabilitation. Your rehabilitation plan will depend on the part of the body or type of ability affected by your stroke.

The goal of stroke rehabilitation is to help you relearn skills you lost when a stroke affected part of your brain. Stroke rehabilitation can help you regain independence and improve your quality of life.

The severity of stroke complications and each person's ability to recover vary widely. Researchers have found that people who participate in a focused stroke rehabilitation program perform better than most people who don't have stroke rehabilitation.

The duration of your stroke rehabilitation depends on the severity of your stroke and related complications. Some stroke survivors recover quickly. But most need some form of long-term stroke rehabilitation, lasting possibly months or years after their stroke.

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Mayo Clinic Q and A: Aphasia can be the first sign of stroke https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-q-and-a-aphasia-can-be-the-first-sign-of-stroke/ Tue, 20 May 2025 12:36:52 +0000 https://newsnetwork.mayoclinic.org/?p=402844 Editors note: May is National Stroke Awareness Month DEAR MAYO CLINIC: My mom had a stroke recently and is really struggling with her speech. She's in speech therapy, but could you please tell me more about this side effect of a stroke? ANSWER: Aphasia is a disorder that affects a person's ability to retrieve language. It’s as […]

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a middle-aged woman wearing glasses and looking out a window, perhaps sad, disappointed or depressed

Editors note: May is National Stroke Awareness Month

DEAR MAYO CLINIC: My mom had a stroke recently and is really struggling with her speech. She's in speech therapy, but could you please tell me more about this side effect of a stroke?

ANSWER: Aphasia is a disorder that affects a person's ability to retrieve language. It’s as if their brain's word cabinet has fallen over and mixed their words around, resulting in varying levels and forms of impairment, including auditory comprehension and verbal expression.

Causes

A stroke happens when blood vessels supplying the brain burst or are blocked. This reduces blood flow to the brain, depriving it of the essential nutrients and oxygen needed to support brain cell life. A stroke and its damage to the primary language centers in the left hemisphere of the brain are the most common cause of aphasia. 

medical illustration of stroke types. Aphasia can be a first sign of stroke

Aphasia can also develop due to a brain tumor, infection or degenerative disease. The underlying cause of aphasia and the location of a stroke or tumor determine the severity of a person's language difficulties.

Temporary aphasia can arise during a migraine. It can also occur from a seizure or transient ischemic attack (TIA), sometimes called a mini-stroke. Anyone who experiences a TIA is at an elevated risk for a full-blown stroke in the future.

Symptoms

A person who is affected by aphasia may:

  • Experience difficulty understanding conversations or directions.
  • Have trouble writing coherent sentences.
  • Speak in brief or incomplete sentences.
  • Use words or sentences that don’t make sense.
  • Have difficulty reading and recognizing letters.

Aphasia can be the first sign of stroke. If you or a loved one experiences these symptoms, seek medical help immediately.

Types of aphasia

Your healthcare team may classify aphasia as:

  • Broca's (non-fluent) aphasia. Non-fluent aphasia is marked by decreased language output, difficulty identifying words, and incomplete or short sentences. People with non-fluent aphasia are usually aware of their communication difficulties because their cognition and comprehension are mostly intact.
  • Wernicke (fluent) aphasia. Fluent aphasia is identified by incoherent word order, word combination errors, grammar mistakes and incorrect word choices. People with fluent aphasia may have a steady flow of speech filled with jargon and made-up words. They also experience paraphasias — substituting a different sound or word for the intended word. People with fluent aphasia typically have difficulty comprehending spoken and written language.
  • Global (mixed) aphasia. Global aphasia results from a major stroke that extensively affects the brain, causing cognition, comprehension and language difficulties. This type of aphasia usually has both receptive and language-expression components.

Testing

A common initial test to determine the cause of aphasia is a CT scan or MRI. In addition, testing usually involves exercises and observations to gauge the person's ability to:

  • Explain a situation shown on paper.
  • Follow directions.
  • Answer questions.
  • Have a conversation.
  • Read and write.
  • Repeat words and sentences.

Treatment and coping

Speech-language therapy is the most common form of treatment. Early intervention and timely treatment are essential for achieving maximum results.

A speech-language pathologist works with patients to regain as many previous language skills as possible or, with certain diseases and conditions, to maintain their communication ability.

Treatment exercises often incorporate activities relevant to the patient to increase motivation and participation. Exercises may include saying their name, address, birth date or family members' names; ordering food from a menu; or writing on a greeting card.

To help someone with aphasia, family and friends can:

  • Continue to treat the person as a mature adult and include them in conversations.
  • Reduce visual distraction and background noises, such as the TV, radio and other conversations.
  • Be sure you have the person's attention before speaking to them.
  • Keep messages short and simple. Speak slowly but naturally. Speaking louder doesn't increase understanding.
  • Use gestures, facial cues and voice intonation to help the person understand the message.
  • Don't assume they understand what you're saying. Your loved one may respond with head nods and sounds of agreement but not understand what's being said.
  • When repeating a statement, avoid changing your language around, use simple language and repeat the phrase the same way.
  • Recognize that their intelligence has nothing to do with their ability to communicate. 
  • Encourage communication and be patient.
  • Give your loved one plenty of time to respond, and try not to answer for them.

Support groups can also aid healing and coping for patients and family members.

Delaney Collins and Kinsey Weyer, Speech-Language Pathology, Mayo Clinic Health System, La Crosse, Wisconsin.

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Advancing the study of Pick’s disease, rare form of early-onset dementia https://newsnetwork.mayoclinic.org/discussion/global-consortium-to-study-picks-disease-rare-form-of-early-onset-dementia/ Wed, 07 May 2025 14:11:00 +0000 https://newsnetwork.mayoclinic.org/?p=386291 JACKSONVILLE, Fla. — Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65. The condition causes changes in personality, behavior and sometimes language impairment. In patients with the disease, tau proteins build up and form abnormal clumps called Pick bodies, which […]

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JACKSONVILLE, Fla. — Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65. The condition causes changes in personality, behavior and sometimes language impairment. In patients with the disease, tau proteins build up and form abnormal clumps called Pick bodies, which restrict nutrients to the brain and cause neurodegeneration. The only way to diagnose the disease is by looking at brain tissue under a microscope after a person dies.

In a new study, Mayo Clinic researchers have identified gene expression changes in the brains of people with Pick's disease. Since Pick's disease is a rare neurodegenerative disorder that cannot be diagnosed during life, their findings offer valuable insights that may help guide the development of biomarkers and therapeutic strategies.

Researchers at Mayo Clinic in Florida, University College London in England and collaborators worldwide have established the Pick's Disease International Consortium to study a specific MAPT gene variation known as MAPT H2 that makes the tau protein and acts as a driver of disease. They investigated a connection between the gene and disease risk, age at onset, and duration of Pick's disease. Their findings are reported in The Lancet Neurology.

Mayo Clinic researchers identified the first MAPT gene mutations for a behavioral form of dementia in 1998, and other genetic changes associated with related dementias in 2001, which paved the way to understanding the mechanisms of tau-related disease. This new study confirms a tau genetic factor linked specifically to Pick's disease and opens up new avenues of therapeutic design.

Portrait of Dr. Owen Ross
Owen Ross, Ph.D.

"Our research could have profound implications for the development of therapies for Pick's disease and other related neurodegenerative diseases, including Alzheimer's disease and progressive supranuclear palsy," says Owen Ross, Ph.D., a Mayo Clinic neuroscientist and senior author of the paper. The consortium hosts a database of clinical, pathological and demographic information about patients with the disease who donated their brain tissue for science.

To conduct the study, researchers investigated brain samples of 338 patients confirmed to have Pick's disease to compare with blood samples from 1,312 neurologically healthy individuals. Patients confirmed to have the disease came from 35 brain banks and hospitals in North America, Europe and Australia between 2020 and 2023. The Mayo Clinic Brain Bank was among the sites in the study that provided the largest collection of samples.

Analyzing DNA from the blood samples and brain tissue, the research team recorded baseline information on study participants, including age at disease onset, age at death for those with Pick's disease, and sex and age at blood collection for the control group. Disease duration was calculated by the difference between age at Pick's disease onset and age at death. In addition, the researchers looked at clinical characteristics such as clinical diagnosis, impairment in behavior and language.

"We found that the MAPT H2 genetic variant is associated with an increased risk of Pick's disease in people of European descent," says Dr. Ross. "We were only able to determine that because of the global consortium, which greatly increased the sample size of pathology cases to study with Pick's disease."

The team's next steps are to expand the consortium to the Middle East, Asia, Africa and Latin America, further resolve the genetic architecture of the disease, and assess this specific genetic variant as a biomarker or test for clinical diagnosis of Pick's disease. There is currently no clinical test or diagnosis available for Pick's disease. For the first time, the creation of the consortium may allow for the development of a clinical test.

Funding for this research at Mayo Clinic was supported in part by the National Institutes of Health, the National Institute of Neurological Disorders and Stroke, the State of Florida Ed and Ethel Moore Alzheimer’s Disease Research Program, and Mayo Clinic Alzheimer's Disease Research Center. For a full list of authors, collaborating institutions and disclosures, see the paper.

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

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Mayo Clinic Minute: Preventing stroke https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-minute-preventing-stroke/ Mon, 05 May 2025 14:00:34 +0000 https://newsnetwork.mayoclinic.org/?p=385943 May is National Stroke Awareness Month, and as part of everyday awareness, Mayo Clinic healthcare professionals suggest reducing stroke risk and knowing the signs. A stroke happens every 40 seconds in the U.S., and the likelihood of stroke increases with age, according to the National Institutes of Health. Watch: The Mayo Clinic Minute Journalists: Broadcast-quality […]

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May is National Stroke Awareness Month, and as part of everyday awareness, Mayo Clinic healthcare professionals suggest reducing stroke risk and knowing the signs. A stroke happens every 40 seconds in the U.S., and the likelihood of stroke increases with age, according to the National Institutes of Health.

Watch: The Mayo Clinic Minute

Journalists: Broadcast-quality video (1:00) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

Preventing a stroke is a crucial aspect of healthcare, as about 80% of all strokes are preventable. The focus is on managing risk factors to reduce the long-term risk of stroke.

A stroke results from a blocked or torn blood vessel that decreases blood flow to the brain. In the U.S., stroke is a leading cause of death and disability.

“Because about 80% of all strokes are preventable, we really focus on prevention,” says Dr. Stephen English, a Mayo Clinic neurologist.

Preventing stroke risks

Tips for lowering stroke risk include maintaining blood pressure under 130/80 and keeping cholesterol and blood glucose at appropriate levels.

"(Other modifiable risks include) things like smoking cessation, treatment of sleep apnea with a CPAP device, and some other potential treatments," he says. "We want to make sure that the risk factors are mitigated to help reduce the long-term risk of stroke."

There are risk factors for stroke that cannot be changed. These include age, sex, race and family history. “There are four nonmodifiable risk factors we typically think about. The first is age, so age greater than 55; males; people that have a family history of prior stroke; and then people that are of African American descent,” says Dr. English.

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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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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

Media contact: 

The post New study in Brain Communications finds personalized deep brain stimulation shows promise for drug-resistant epilepsy appeared first on Mayo Clinic News Network.

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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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