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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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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
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author Orsucci, Daniele
Lorenzetti, Lucia
Baldinotti, Fulvia
Rossi, Andrea
Vitolo, Edoardo
Gheri, Fabio Luigi
Napolitano, Alessandro
Tintori, Giancarlo
Vista, Marco
author_facet Orsucci, Daniele
Lorenzetti, Lucia
Baldinotti, Fulvia
Rossi, Andrea
Vitolo, Edoardo
Gheri, Fabio Luigi
Napolitano, Alessandro
Tintori, Giancarlo
Vista, Marco
author_sort Orsucci, Daniele
collection PubMed
description 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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spelling pubmed-88760352022-02-26 Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective Orsucci, Daniele Lorenzetti, Lucia Baldinotti, Fulvia Rossi, Andrea Vitolo, Edoardo Gheri, Fabio Luigi Napolitano, Alessandro Tintori, Giancarlo Vista, Marco J Clin Med Review 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. MDPI 2022-02-15 /pmc/articles/PMC8876035/ /pubmed/35207276 http://dx.doi.org/10.3390/jcm11041002 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Orsucci, Daniele
Lorenzetti, Lucia
Baldinotti, Fulvia
Rossi, Andrea
Vitolo, Edoardo
Gheri, Fabio Luigi
Napolitano, Alessandro
Tintori, Giancarlo
Vista, Marco
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
title Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
title_full Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
title_fullStr Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
title_full_unstemmed Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
title_short Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
title_sort fragile x-associated tremor/ataxia syndrome (fxtas): a gender perspective
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8876035/
https://www.ncbi.nlm.nih.gov/pubmed/35207276
http://dx.doi.org/10.3390/jcm11041002
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