Navigation Links
'Rare' brain disorder may be more common than thought, say Mayo Clinic scientists
Date:12/25/2011

JACKSONVILLE, Fla. -- A global team of neuroscientists, led by researchers at Mayo Clinic in Florida, have found the gene responsible for a brain disorder that may be much more common than once believed. In the Dec. 25 online issue of Nature Genetics, the researchers say they identified 14 different mutations in the gene CSF1R that lead to development of hereditary diffuse leukoencephalopathy with spheroids (HDLS). This is a devastating disorder of the brains white matter that leads to death between ages 40 and 60. People who inherit the abnormal gene always develop HDLS. Until now, a definite diagnosis of HDLS required examination of brain tissue at biopsy or autopsy.

The finding is important because the researchers suspect that HDLS is more common than once thought and a genetic diagnosis will now be possible without need for a brain biopsy or autopsy. According to the studys senior investigator, neurologist Zbigniew K. Wszolek, M.D., a significant number of people who tested positive for the abnormal gene in this study had been diagnosed with a wide range of other conditions. These individuals were related to a patient known to have HDLS, and so their genes were also examined.

Because the symptoms of HDLS vary so widely — everything from behavior and personality changes to seizures and movement problems — these patients were misdiagnosed as having either schizophrenia, epilepsy, frontotemporal dementia, Parkinsons disease, '/>"/>

Contact: Kevin Punsky
punsky.kevin@mayo.edu
904-953-2299
Mayo Clinic
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. ICU Patients at Risk for Rare Heart Rhythm Problem
2. reco jeans Supports Children With Rare Diseases
3. Scanning for skin cancer: Infrared system looks for deadly melanoma
4. Genetic Disease Foundation Encourages Americans to Know Their Genes at KnowYourGenes.org in Observance of World Rare Disease Day
5. Genetic cause discovered for rare bleeding disorder
6. Benefits of Osteoporosis Treatments Outweigh Possible Risk of Rare Femoral Fractures
7. Kids With Rare Condition Lack Racial Prejudice
8. Guillain-Barre Syndrome Very Rare After H1N1 Vaccine
9. Renowned Researcher Joins Children's National Medical Center to Help Conquer Rare Diseases
10. Touchstone Saunas Goes Online to Provide Premium Quality Infrared Saunas
11. Drinking While Pregnant Tied to Rare Leukemia in Offspring
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/23/2014)... understanding of how living things function comes from knowledge ... of life, the receptors that are docking stations for ... and RNA that carry genetic blueprints for building cellular ... access to these structural details, a new grant just ... the U.S. Department of Energy (DOE) will fund the ...
(Date:9/23/2014)... New York, N.Y. (PRWEB) September 23, 2014 ... supplement to join the Royal Sport LTD family of ... 100 calories and 20g of pure Whey protein without ... , This ‘Ultra Clean’ protein is available on shelves ... Royal Sport LTD website—where the brand is offering a ...
(Date:9/23/2014)... (PRWEB) September 23, 2014 ADOMANI, Inc. ... serving as President and CEO. He is a 13-year veteran ... former President and CEO of A-Z Bus Sales of Colton, ... of their success, growing their top line revenues, profit and ... their gas or diesel to all-electric or plug-in hybrid ...
(Date:9/23/2014)... 2014 Airbus Helicopters Inc. (AHI) is ... as the 2014 Vision Zero Aviation Safety Award ... database, a free flight safety service the company provides ... - Air Medical Specialist for Airbus Helicopters Inc., presented ... check during the Air Medical Transport Conference Annual Community ...
(Date:9/23/2014)... special issue of the European Journal of Cancer ... research presented during the 1st EORTC Cancer Survivorship Summit ... diagnosis, targeted therapeutics, and more personalized multimodal treatments has ... to a large and rapidly increasing number of cancer ... confronted with a broad spectrum of late adverse treatment ...
Breaking Medicine News(10 mins):Health News:New NIH/DOE grant for life science studies at NSLS-II 2Health News:New NIH/DOE grant for life science studies at NSLS-II 3Health News:Sports Nutrition Brand, Royal Sport LTD, Introduces 'Clean,' Gluten Free Protein Supplement, Royal Sport Ultra Clean 100™ 2Health News:ADOMANI Announces Jim Reynolds to Take Over as President and CEO 2Health News:Protean wins Airbus Helicopters Vision Zero Aviation Safety Award 2Health News:Protean wins Airbus Helicopters Vision Zero Aviation Safety Award 3Health News:Protean wins Airbus Helicopters Vision Zero Aviation Safety Award 4
... a significantly enhanced quality of life in old age ... less afraid of death than their less religious peers ... professor of sociology at the University of New Hampshire. ... her collaborator, Paul Wink, professor of psychology at Wellesley ...
... for chronic obstructive pulmonary disease (COPD), can be ... new study. The research, presented at CHEST 2006 ... of the American College of Chest Physicians (ACCP), ... a large proportion of subjects with significant impairment. ...
... years will soon be assessed by a new random-dot stereotest ... article published in the November 2006 // issue of Investigative ... children, 38 with various visual impairments and 18 with normal ... alone with their heads stabilized by a chin and front ...
... law which makes possession of child pornography material a federal ... is a pedophile or become one based on the child ... number of cases are going to court and attorneys are ... person has child porn on their computer," said Dr. Humberto ...
... diabetes in middle age could face more complications later in ... new study.// ,Elizabeth Selvin of the Johns Hopkins Bloomberg ... than 2,800 people aged 65 and above with diabetes who ... the online edition of health Magazine WebMD. ,The ...
... Researchers from the Autonomous University of Tamaulipas are putting teeth ... of pacifiers by babies in their first year of birth, ... alignment in complete disarray. ,Researchers are armed to ... children between the ages of 4 and 5 who were ...
Cached Medicine News:Health News:Religious Adults Have a Higher Quality of Life than Their Peers 2Health News:Large Community Spirometry Screening Proves Successful 2Health News:Does Child pornography lead to Child abuse? 2Health News:Does Child pornography lead to Child abuse? 3
(Date:9/23/2014)... Pa. , Sept. 23, 2014 The Pennsylvania ... drugs Sat., Sept. 27, as part of National Prescription ... no questions asked. Take-Back Day is a ... Enforcement Administration (DEA), aimed at encouraging the public to ... are prone to abuse and theft. From ...
(Date:9/23/2014)... , Sept. 23, 2014 Galmed Pharmaceuticals ... clinical-stage biopharmaceutical company focused on the development and ... treatment of liver diseases and cholesterol gallstones, announced ... or the FDA, approved its request for Fast ... the treatment of Non-Alcoholic Steato-Hepatitis, or NASH.  ...
(Date:9/23/2014)... -- Vesselon, Inc. today announced the appointment of Jurgen Raths, ... 2014. Dr. Raths, appointment follows Vesselon,s engagement with Spencer ... a private preferred Series A round to facilitate development ... "Jurgen,s deep experience across multiple functional areas of medical ... as we develop our device that can be compared ...
Breaking Medicine Technology:Galmed Pharmaceuticals Announces U.S. FDA Approval of Fast Track Designation of Aramchol for the Treatment of NASH 2Galmed Pharmaceuticals Announces U.S. FDA Approval of Fast Track Designation of Aramchol for the Treatment of NASH 3Vesselon Announces Jurgen Raths, MD to Serve on Board of Directors 2Vesselon Announces Jurgen Raths, MD to Serve on Board of Directors 3
... 2011 Express Scripts (Nasdaq: ESRX ), one ... announced today its intention to release its third quarter earnings ... will hold its quarterly conference call to discuss third quarter ... Time (8:30 a.m. Central Time). This call is ...
... U.S. Food and Drug Administration has issued a proposed ... classification for external pacemaker pulse generators from Class III ... http://photos.prnewswire.com/prnh/20090824/FDALOGO ) External pacemaker pulse generators are ... permanent pacemaker can be implanted. They are also used ...
Cached Medicine Technology:FDA Proposes Lower Risk Classification, Special Controls for External Pacemakers 2FDA Proposes Lower Risk Classification, Special Controls for External Pacemakers 3
... Built-in 15 mm ISO termination for ... inner cannula in place. , ,Clearly ... inner cannula system , ,The Portex® ... constructed of siliconized polyvinyl chloride, providing a ...
... 15 mm ISO termination for easy ventilator ... in place., ,D.I.C.® tubes are available ... fenestrated styles. A color-coded system allows quick ... inner cannula. , ,The Portex® line ...
Indications For Usage: ,Bypass upper airway obstructions, provide long term ventilation, support and/or manage tracheal/bronchial secretions...
Tube, tracheostomy, cuffed, size 8.0, SS, spiral reinforced PVC....
Medicine Products: