Neurosciences - November 2012 Archives

PHOENIX, Ariz. — A program at Mayo Clinic using telemedicine technology is showing promise for patients with concussions in rural Arizona. A case study published in the December 2012 issue of Telemedicine and e-Health validates "teleconcussion" as a useful means to assess concussed patients. In the case study, doctors at Mayo Clinic in Arizona conducted a live audio-video evaluation of a 15-year-old soccer player in Show Low, Ariz., who received a concussion during a game. The teleconcussion evaluation, believed to be the first in the state to use telemedicine for concussions, supports the use of this technology to bring concussion expertise to rural locations. Similar telestroke, teleneurology, and teleepilepsy programs have been operating at Mayo Clinic in Arizona for several years. More than one-third of rural Arizona lacks access to the kind of neurological expertise found in metropolitan areas. Mayo Clinic's program aims to address this disparity by providing support through these programs. With telemedicine technology, use of a specialized remote controlled camera system allows the patient in the rural setting to be "seen" by the neurology specialist — in real time. The Mayo Clinic neurologist, whose face appears on the screen of the monitor, consults with physicians at the rural sites and evaluates the patient via Internet-based computers. "When a community doesn't have ready access to providers trained in the recognition and management of concussion, concussed athletes sometimes go unrecognized or returned to play prematurely potentially subjecting them to more serious injuries," says Bert Vargas, M.D., neurologist and assistant professor of Neurology at Mayo Clinic in Arizona. "Teleconcussion can help triage patients and help identify which people are in need of additional workup or management. In the case of sport-related concussions, this technology can provide rural physicians with assistance in making decisions about when athletes can safely return to play." Click here to hear Dr. Vargas talk about teleconcussion and the case study. Dr. Vargas says that this technology is welcome news for doctors in rural areas, especially in light of the concussion law in Arizona. SB 1521, which was signed into law in 2011, mandates evaluation and clearance athletes with concussions by trained health care providers. "Despite the current culture of increased awareness and recognition of concussions, concussed athletes go unrecognized — even at the professional level," Dr. Vargas adds. "Many professional sports organizations have voiced the need for neurologists to be on the sideline to make rapid authoritative decisions regarding return to play for athletes suspected of having a concussion. Teleconcussion may eventually be a way to address the logistical issues associated with having a neurologist on the sideline of every professional and collegiate level sporting event."

JACKSONVILLE, Fla. — A novel test that measures proteins from nerve damage that are deposited in blood and spinal fluid reveals the rate of progression of amyotrophic lateral sclerosis (ALS) in patients, according to researchers from Mayo Clinic's campus in Florida, Emory University and the University of Florida. Their study, which appears online in the Journal of Neurology, Neurosurgery & Psychiatry, suggests this test, if perfected, could help physicians and researchers identify those patients at most risk for rapid progression. These patients could then be offered new therapies now being developed or tested. ALS — also known as Lou Gehrig's disease — is a progressive neurodegenerative disease caused by deterioration of motor neurons (nerve cells) that control voluntary muscle movement. The rate of progression varies widely among patients, and survival from the date of diagnosis can be months to 10 years or more, says Kevin Boylan, M.D., medical director of the ALS Clinic at Mayo Clinic in Florida. "In the care of our ALS patients there is a need for more reliable ways to determine how fast the disease is progressing," says Dr. Boylan, who is the study's lead investigator. "Many ALS researchers have been trying to develop a molecular biomarker test for nerve damage like this, and we are encouraged that this test shows such promise. Because blood samples are more readily collected than spinal fluid, we are especially interested in further evaluating this test in peripheral blood in comparison to spinal fluid." There are no curative or even significantly beneficial therapies in clinics now for ALS treatment, but many are in development, Dr. Boylan says. A test like this could help identify those patients who are at risk for faster progression of weakness. With experimental treatments that primarily slow progression of ALS, detecting a treatment response in patients with faster progression may be easier to detect, says Dr. Boylan. Now, patients with varying rates of progression participate together in clinical studies, which can make analysis of a drug's benefit difficult, he says. "If there were a way to identify people who are likely to have relatively faster progression, it should be possible to conduct therapeutic trials with smaller numbers of patients in less time than is required presently," Dr. Boylan says. A longer-range goal is to develop tests of this kind to gauge how well a patient is responding to experimental therapies, he adds. The test measures neurofilament heavy form in blood and spinal fluid. These are proteins that provide structure to motor neurons, and when these nerves are damaged by the disease, the proteins break down and float free in blood serum and in the spinal fluid. Earlier research in this area was conducted by Gerry Shaw, Ph.D., a neuroscientist at the University of Florida, who is the study's senior investigator and the developer of the neurofilament assay used in the study.

Epilepsy is a disease that can control your life. For example, the man you’re about to meet had to give up his driver’s license, his ...

An international team, including researchers from MayoClinic, has discovered a gene so powerful it nearly triples the risk of  Alzheimer’s disease. It is the most potent genetic ...

JACKSONVILLE, Fla. — A gene so powerful it nearly triples the risk of Alzheimer's disease has been discovered by an international team including researchers from Mayo Clinic. It is the most potent genetic risk factor for Alzheimer's identified in the past 20 years. The findings were reported Wednesday in the online edition of the New England Journal of Medicine. The team included researchers from 44 institutions around the world, including 10 from Mayo Clinic's campuses in Florida and Minnesota. The study was led by John Hardy, Ph.D., a researcher at the Institute of Neurology at University College London and a former professor at Mayo Clinic in Florida. The researchers used new sequencing techniques to home in on the TREM2 gene. Additional TREM2 sequencing was then performed, in part, by scientist Aleksandra Wojtas in the Mayo Clinic in Florida laboratory of Rosa Rademakers, Ph.D. These studies led to identification of a set of rare variants in TREM2 that occurred more often in 1,092 Alzheimer's disease patients than in a control group of 1,107 healthy people. The most common variant, R47H, was then evaluated in follow-up studies of a large number of Alzheimer's disease patients and controls. Minerva Carrasquillo, Ph.D., a scientist in the Mayo Clinic in Florida laboratory of Steven Younkin, M.D., Ph.D., spearheaded the direct genotyping and analysis of R47H in DNA samples from 1,994 Alzheimer's disease patients and 4,062 "control" participants — individuals verified not to have Alzheimer's. The patients and control participants were evaluated by Mayo Clinic physicians, led by co-authors Dennis Dickson, M.D., Neill Graff-Radford, M.D., and Ronald Petersen, M.D., Ph.D. These follow-up studies showed unequivocally that the R47H variant of TREM2 substantially increases the risk of Alzheimer's disease. "The TREM2 variant may be rare, but it is potent," Dr. Carrasquillo says. "In our series, it was present in 1.9 percent of the Alzheimer's patients and in only 0.37 percent of the controls. This strong effect rivals that of the well-established genetic variant known as APOE 4, and it was observed both in our study and in the independent study led by deCODE that was published with ours. R47H isn't fully penetrant — meaning that not all people who have the variant will develop Alzheimer's and in those who do, other genes and environmental factors will also play a role — but like APOE 4 it does substantially increase risk." Dr. Younkin comments: "R47H is the first goldilocks variant to show strong association with Alzheimer's disease." Now being identified using the new sequencing technologies, goldilocks variants are an important type of rare variant so named because they are just right, not too rare and strong enough to show highly significant association in well-powered follow-up genotypic studies like the one performed at Mayo. "There is a broad consensus that prevention will be the best way to manage Alzheimer's disease," Dr. Younkin says. "In my view, common variants like APOE 4 and goldilocks variants like TREM2 R47H are important because they could be used, in principal, to identify many healthy people at high risk of Alzheimer's disease who would be suitable for prevention trials. Patients whose Alzheimer's disease is driven by high risk genetic variants will frequently transmit these variants to their children. We now know that it takes a long time for the pathology of Alzheimer's disease to produce symptoms, so prevention in children who receive these variants would ideally begin when their elderly parents are diagnosed."

PHOENIX – It's been said that marriage is good for your health — especially if you're a man. Research at Mayo Clinic in Arizona shows that's true when it comes to seeking care for stroke symptoms. VIDEO: Dr. Lee-Iannotti explains the study. A Mayo Clinic study, presented at the American Stroke Conference in New Orleans in early February, says that men experiencing a stroke call for emergency help quicker than women, especially if they are married. "Marriage has long been shown to offer health benefits and often more for men," said Joyce Lee-Iannotti, M.D., a neurology Fellow at Mayo Clinic in Arizona and author of the study. "The reasons are unclear, but it's been postulated that it can be societal roles, where women take on the roles of caregivers and advise their spouses to seek care, often putting their own health behind that of their children and husband." The study was a retrospective review of 209 patients with acute stroke symptoms brought by emergency medical services to Mayo Clinic in Phoenix over 15 months ending in November 2011. Researchers collected participants' age, gender, marital status, time of symptom awareness and time of emergency medical services dispatch. They compared the time from symptoms awareness to EMS dispatch between married and single participants and between men and women. Married men called within 28 minutes of symptoms compared to married women, who called an average of 67 minutes after their first stroke symptoms. Single men activated EMS earlier than single women, but the difference was not significant. The average age of the patients was 76 years; half were women, half were men. Approximately half were married and about half were single. The researchers found that, overall, the group of married patients called for emergency services more quickly than their single counterparts, but the difference wasn't significant. The researchers plan a future study of the reasons why married men with stroke symptoms seek medical attention earlier. Dr. Lee-Iannotti urges everyone, regardless of gender, to watch for signs and symptoms if you think you or someone else may be having a stroke. Note when signs and symptoms begin, because the length of time they have been present may guide treatment decisions. Signs and symptoms of stroke: Trouble with walking. You may stumble or experience sudden dizziness, loss of balance or loss of coordination. Trouble speaking and understanding. You may experience confusion. You may slur your words or be unable to find the right words to explain what is happening to you (aphasia). Try to repeat a simple sentence. If you can't, you may be having a stroke.

SCOTTSDALE, Ariz. – A new study from Mayo Clinic supports the idea that "what's good for your heart is good for your brain." The study, ...

Mayo Clinic in Arizona is the first and only clinical center in the U.S. Southwest to offer a new treatment that disrupts the growth of ...

SCOTTSDALE, Ariz. — Mayo Clinic in Arizona is the first and only clinical center in the Southwest to offer a new treatment that disrupts the ...