It has been estimated that there may be as many as 1,000,000 carriers of the FMR1 premutation in the United States. A significant portion of these individuals will develop medical problems related to the premutation, including fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor ataxia syndrome (FXTAS). FXTAS is a progressive, neurodegenerative disease that manifests in tremor, ataxia, executive dysfunction, and neuropathy. Patients with FXTAS are identified through known fragile X families or, more recently, by an adult neurologist.
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