Dystonia in a Female Fragile X Premutation Carrier

Although larger trinucleotide expansions give rise to a neurodevelopmental disorder called fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a “premutation” (55–200 CGG repeats) in the FMR1 gene. FXTAS is one of the more common single-gene forms of late-onset ataxia and tremor that may have a more complex development in women, with atypical presentations. After a brief presentation of the atypical case of an Italian woman with FXTAS, who had several paroxysmal episodes suggestive of acute cerebellar and/or brainstem dysfunction, this article will revise the phenotype of FXTAS in women. Especially in females, FXTAS has a broad spectrum of symptoms, ranging from relatively severe diseases in mid-adulthood to mild cases beginning in later life. Female FXTAS and male FXTAS have a different symptomatic spectrum, and studies on the fragile X premutation should be conducted separately on women or men. Hopefully, a better understanding of the molecular processes involved in the polymorphic features of FXTAS will lead to more specific and effective therapies for this complex disorder.

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Dystonia in a Female Fragile X Premutation Carrier

Cited by 3 publications

References 9 publications

Widening the Phenotype of Fragile‐X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two Patients

Widening the Phenotype of Fragile‐X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two Patients

Dystonic Tremor as the Clinical Manifestation of Fragile X‐Associated Tremor/Ataxia Syndrome

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective

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