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

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 comm...

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Detalles Bibliográficos
Autores principales: Orsucci, Daniele, Lorenzetti, Lucia, Baldinotti, Fulvia, Rossi, Andrea, Vitolo, Edoardo, Gheri, Fabio Luigi, Napolitano, Alessandro, Tintori, Giancarlo, Vista, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8876035/
https://www.ncbi.nlm.nih.gov/pubmed/35207276
http://dx.doi.org/10.3390/jcm11041002
Descripción
Sumario: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.