Fragile X-associated tremor/ataxia syndrome

Also known as: FXTAS

Late-onset neurodegenerative disorder in FMR1 premutation carriers.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: more common and more severe; Female: less often and milder; Children: no, onset after 50 years
Gene(s) involved: FMR1

Etiology & mechanism

CGG repeat expansion of 55–200 causes toxic RNA gain of function.

Gene(s) involved (1)

FMR1

Symptoms & signs (6)

cerebellar ataxiacognitive declineintention tremormiddle cerebellar peduncle sign (mri)neuropathyparkinsonism

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.