Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report

People carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS). FXTAS clinical findings are late-onset psychological disorders, cerebellar gait ataxia, cognitive decline, and cerebellar intentional tremor. About 8% of female and 75% of male FMR1 premutation carriers develop FXTAS. Due to the protective effect of the second X chromosome, FXTAS have rarely been observed in women extremely rare. We describe a sixty-eight-year-old female carrier of the FMR1 premutation who presented with symptoms of tremor and gait ataxia and whose son has mental retardation with fragile-X syndrome. Mild global brain atrophy and white- matter lesions were observed in the magnetic resonance imaging images. Genetic analysis confirmed the premutation with a number of 90 CGG repeats. FXTAS is a neurodegenerative disease with a premutation of the FMR1 gene. Female patients with gait ataxia and tremor should be referred for a genetic test with family members.