Pearls Oy-sters: Fragile X tremor/ataxia syndrome A diagnostic dilemma

摘要

Fragile X tremor/ataxia syndrome (FXTAS) is a progressive, adult-onset, X-linked genetic disorder caused by the CGG premutation FMR1 gene. The clinical features of the syndrome are diverse, as patients can present with parkinsonism, bilateral hand tremor, ataxia, and cognitive decline. The syndrome can mimic more common neurodegenerative disorders such as Parkinson disease or the atypical parkinsonian syndromes, Alzheimer disorders, essential tremor, or pure ataxia. Ultimately the diagnosis is supported by recognition of the clinical features, family history, neuroimaging clues, and finally confirmation with genetic testing.