M.I.N.D. Institute researchers call for fragile X testing throughout the lifespan Nov 26, 2008
The premutation can cause attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder in children; primary ovarian failure (early menopause) in women; and FXTAS, or fragile X- associated tremor-ataxia syndrome, in older adults. The Hagermans and their colleagues at the M.I.N.D. Institute are conducting clinical trials of targeted drug treatments that have shown promise in animal studies. (EurekAlert!)
New Gene Linked To Fragile X Syndrome -- Suggests Potential Targets For Autism And Other Neurological Disorders Feb 2, 2008
"Like FMR1, FMR4 is silenced in fragile X patients and up-regulated in FXTAS (fragile X-associated tremor/ataxia syndrome), a disease that resembles Parkinson's disease. Our discovery could lead to the development of new diagnostic tests or even to novel therapies for these defects.". Fragile X syndrome affects thousands of patients worldwide with severe learning disabilities, often accompanied by anxiety disorders, obsessive-compulsive behavior, and attention deficit hyperactivity disorder. (Science Daily)
UC Davis Receives More Than $21 Million To Find Treatments That Reverse Common Cause Of Dementia In Older Adults Davis, Sep. 06 Sep 7, 2007
The funding establishes the NeuroTherapeutics Research Institute at the University of California, Davis, which is dedicated to finding effective interventions that reduce or eliminate the debilitating balance problems, tremors and dementia associated with older adults who have FXTAS, or fragile X-associated tremor/ataxia syndrome ... "Dr. Hagerman and his colleagues have put together an impressive team of scientists with expertise in genetics, neurophysiology, neuroimaging and therapeutics... (University of California Newswire, CA)
A new RNA disease? Aug 16, 2007
The current work confirms that in Fragile X Tremor/Ataxia Syndrome (FXTAS), also a neuromuscular degenerative disease marked by trinucleotide repeats, RNA pathogenesis is also to blame ... "The point is you get the disease because of the effect and expression of a mutant RNA, not because of the effect or expression of a mutant protein." FXTAS is a neurodegenerative disorder in which a non-coding region of the fragile X mental retardation 1 (FMR1) gene consisting of trinucleotide repeats is... (The Scientist)
Webcast and Experts Consortium Highlight National Fragile X Awareness Day Activities Jul 20, 2007
The same genetic mutation that results in FXS is also known to cause balance, tremor and memory problems in adult male carriers (a condition known as fragile X-associated tremor ataxia syndrome, or "FXTAS") and reproductive problems in female carriers (the condition of premature ovarian failure, or "POF"). When all three Fragile X-related conditions are taken into account, more than one million Americans are either affected or at-risk to be affected. (PR Newswire)
FragileX Walk planned April 21 Mar 25, 2007
Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers. Carriers of permutation (CGG) expansions of the fragile X gene are generally thought to be spared most of the problems associated with the full mutation; however, a newly identified neurological disorder, involving progressively severe tremor and difficulty with walking and balance, appears to specifically affect some older permutation carriers, generally... (Canton Daily Ledger, IL)
