Fragile X-Associated Tremor/Ataxia Syndrome

Fragile X-associated tremor/ataxia syndrome is a genetic disorder affecting mostly men and causing tremor, ataxia, and dementia.

Geriatric Essentials

• Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly recognized and thus an underdiagnosed disorder; it should be considered during differential diagnosis in elderly patients with tremor, gait difficulties, or dementia.
• Genetic counseling and testing are recommended for descendants of an affected patient before they attempt conception.

Fragile X-associated tremor/ataxia syndrome (FXTAS) affects up to about 1/3000 men. Affected men carry the gene that causes fragile X syndrome in children; most are grandfathers of such children. FXTAS develops in about 30% of carriers. Women may also carry the gene but do not appear to develop the disorder.

Symptoms usually develop during older age; they include tremor that resembles essential tremor, ataxia, and dementia. Diagnosis is by genetic testing. Treatment of FXTAS is often unsuccessful, but drugs used to treat essential tremor or Parkinson's disease may be tried.

This topic was last updated June 2006.