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- Title
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.
- Authors
Orsucci, Daniele; Lorenzetti, Lucia; Baldinotti, Fulvia; Rossi, Andrea; Vitolo, Edoardo; Gheri, Fabio Luigi; Napolitano, Alessandro; Tintori, Giancarlo; Vista, Marco
- Abstract
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.
- Subjects
SPINOCEREBELLAR ataxia; FRAGILE X syndrome; ATAXIA; TREMOR; SYNDROMES; GENDER
- Publication
Journal of Clinical Medicine, 2022, Vol 11, Issue 4, pN.PAG
- ISSN
2077-0383
- Publication type
Article
- DOI
10.3390/jcm11041002