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.

To learn more about:

• The origin of FXTAS
• The importance of FXTAS in understanding Fragile X Syndrome
• The National Fragile X Foundation - Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)