Common and small mutation in the fragile X gene, once thought to have no health effects in male carriers, now linked to tremors, balance problems and dementia.
(SACRAMENTO, Calif.) – A team of researchers, led by physicians at the UC Davis M.I.N.D Institute, will announce the discovery of a new, progressive neurodegenerative disorder that predominantly affects men over age 50 and results in tremors, balance problems and dementia that become increasingly more severe with age. The disorder appears later in life in men who are generally healthy throughout childhood and early-to-mid-adulthood, yet is caused by a defect in a gene known to cause mental retardation in future generations.
Researchers began looking for a connection between children and their grandfathers because the mothers of fragile X patients were worried about their own fathers, who were falling down, becoming forgetful and experiencing other neurological problems.
A significant but unknown number of adults with these symptoms are being misdiagnosed as normal aging, Parkinson's disease, senile dementia and Alzheimer's disease when their condition may be accurately and easily identified with a standard DNA blood test ordered by their doctor.
Nearly 1 in 800 men in the general population carries this premutation in the fragile X gene, and UC Davis research suggests that as many as 30 percent of carriers--roughly 1 in 3,000 men--may develop FXTAS later in life.
Screening for the gene mutation in men who have tremor and balance problems is important regardless of their family history, especially when accompanied by other signs such as parkinsonism (rigidity in movement), short-term memory loss and dementia.
Tuesday, Jan. 27 at noon, Pacific time
UC Davis Medical Center – M.I.N.D. Institute, 2825 50th Street, 2nd floor, Sacramento
See the Mind Institute Web site for map and directions at : http://mindinstitute.org/indexnew.htm.
Interviews with physicians, research team, patient and other family members. Genetic cause of disease revealed using artist's renderings as well as brain images of an affected patient.
Advance copy of news release – Embargoed for a 1 p.m. Pacific time release – available at EurekAlert on the Web: (http://www.eurekalert.org/).
Full media materials -- including artist's rendering, brain images (MRI), and video news release preview– available to reporters honoring embargo at the Mind Institute listed on previous page. (posted by Mon., Jan. 26 at 9 a.m. Pacific time) Webcast: Audio and video from briefing to be transmitted, with opportunity to ask questions via email during news briefing contact the Public Affairs Office (listed below) to arrange an interview.
Satellite Feeds: Satellite feed to all stations/networks on Tues., Jan 27 and Wed., Jan. 28. Preview of video news release available on Mon., Jan 26 at 9 a.m. Pacific time on the Web: http://news.ucdmc.ucdavis.edu/FXTAS_VNR
Jan. 27 - 4 to 4:15 pm Eastern time/1-1:15 pm Pacific time
Jan. 28 - 1:30 to 1:45 pm Eastern time/ 10:30 am - 10:45 am Pacific time
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Source: Eurekalert & othersLast reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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