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Article of Interest - Fragile X

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The Top Ten Things You Should Know About Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
By Drs. Randi and Paul Hagerman (originally published April 2006, in Extra, Extra the Fragile X Association of Michigan quarterly newsletter)
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  1. It’s genetic.

  2. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), first reported in 2001, is an adult-onset neurological disorder that is caused by the same (fragile X) gene that causes fragile X syndrome, although FXTAS appears to be restricted to carriers of smaller (premutation) expansions of the gene than the full mutations that cause fragile X syndrome. FXTAS typically develops after the age of 50, with either tremor or ataxia, and it’s usually gradually progressive.

  3. One in 800 men is a carrier, it’s estimated that nearly one-half of male carriers in families with known fragile X syndrome will develop FXTAS, a smaller number of carrier men in the general population will develop FXTAS. Approximately 10,000 to 20,000 men in the United States over 50 may have FXTAS, associated with carrying the premutation.

  4. Approximately one in 130 females is a carrier, a small percentage of women with the permutation compared to males may develop FXTAS.

  5. FXTAS can involve tremors, problems with balance/walking (called ataxia), and/or dementia, and is often misdiagnosed as Parkinson's and/or Alzheimer’s disease.

  6. Men and women, 50 years of age and older who have ataxia (walking/balance problems), and/or late-onset tremor, parkinsonism, or dementia along with a family history of developmental delay, autism, mental retardation, or premature ovarian failure, should be tested.

  7. Testing for FXTAS is the same as testing for Fragile X Syndrome, a blood test of the FMR1 gene, which gives a CGG repeat number. The test should include both a “Southern blot” and “PCR” test for FXTAS to obtain a diagnosis or to rule it out.

  8. Treatment – course of treatment can include SSRIs or Effexor XR for the psychiatric problems including anxiety, depression and moodiness, gabapentin for neuropathic pain in legs, and a variety of medication for the tremor. Hypertension can also occur with FXTAS and should be treated because it can worsen the brain changes associated with FXTAS. Treatment information is still anecdotal and treatment studies have not yet been carried out for FXTAS.

  9. The premutation and early FXTAS symptoms may be exacerbated by other neurological diseases such as multiple sclerosis, Alzheimer’s Disease and Parkinson’s Disease or chemotherapy in cancer patients.

  10. Where to go for the most accurate and up-to-date information on FXTAS:

  • National Fragile X Foundation, www.fragilex.org/html/fxtas.htm

  • Fragile X and company: Finding the right diagnosis, Patient Page, www.neurology.org

  • American Academy of Neurology (AAN), Date: July 19, 2005, http://www.newswise.com/articles/view/513235/

  • The U.C. Davis M.I.N.D. Institute, www.ucdmc.ucdavis.edu/mindinstitute/research/fxrtc.html

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