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What Is FXTAS?

Fragile X–associated tremor/ataxia syndrome (FXTAS) is an “adult onset” neurodegenerative disorder, usually affecting males over 50 years of age. Females comprise only a small part of the FXTAS population, and their symptoms tend to be less severe. FXTAS affects the neurologic system and progresses at varying rates in different individuals. All individuals with FXTAS are carriers of what is called a “premutation” of the “fragile X” (FMR1) gene. In its “full mutation” form this gene causes fragile X syndrome (FXS), a different, but genetically related disorder that is present from birth but is often undiagnosed or misdiagnosed. Female “premutation” carriers can also be affected by Fragile X-associated primary ovarian insufficiency (FXPOI), the third of the Fragile X- associated disorders identified by scientists since the discovery of fragile X gene in 1991.

 

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