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)
For more articles like this
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.
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.
Approximately one in 130 females is
a carrier, a small percentage of women with the permutation
compared to males may develop FXTAS.
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.
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.
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.
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.
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.
Where to go for the most accurate
and up-to-date information on FXTAS:
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