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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-8876035 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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