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The prevalence of the FMR1 premutation ranges from 1/116 to 1/259 in women and from 1/251 to 1/1,250 in men. Population studies investigating the prevalence of FXTAS in the general population have not been conducted due to the rarity of the disorder. The prevalence of FXTAS is estimated to be 1/4,000 in men over the age of 55, due to age-dependent penetrance. The prevalence in women is thought to...
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older adult carriers of the FMR1 premutation and can be associated with a broad array of clinical symptoms and presentations including tremor, ataxia, parkinsonism, executive function disturbance and dementia, psychiatric symptoms of anxiety, depression and disinhibition, peripheral neuropathy, autonomic dysfunction, hormonal dysfunction,...
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