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FXTAS

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)

Carriers of premutation (CGG) expansions of the Fragile X gene are generally thought to be spared most of the problems associated with the full mutation. However, a newly identified neurological disorder, involving progressively severe tremor and difficulty with walking and balance, appears to specifically affect some older premutation carriers, generally grandfathers of children with Fragile X Syndrome. Although this neurological disorder occurs by a completely separate mechanism from Fragile X Syndrome – and affects different individuals – it is caused by the same gene and, therefore, opens a new portal for understanding how the Fragile X gene works.

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