Spinocerebellar ataxia type 40: A case report and literature review

Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases with ataxia as the main clinical manifestation. The phenotypes, gene mutations, and involved sites of different subtypes show a high degree of heterogeneity. The incidence of SCA varies greatly among different subtypes and the...

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Detalles Bibliográficos
Autores principales: Han, Fengyue, Su, Dan, Qu, Chuanqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525662/
https://www.ncbi.nlm.nih.gov/pubmed/34721893
http://dx.doi.org/10.1515/tnsci-2020-0190
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author Han, Fengyue
Su, Dan
Qu, Chuanqiang
author_facet Han, Fengyue
Su, Dan
Qu, Chuanqiang
author_sort Han, Fengyue
collection PubMed
description Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases with ataxia as the main clinical manifestation. The phenotypes, gene mutations, and involved sites of different subtypes show a high degree of heterogeneity. The incidence of SCA varies greatly among different subtypes and the case of SCA40 is extremely rare. The aim of this study is to report a rare case of SCA40 and systematically review the incidence, gene mutation, and phenotype of SCAs, especially SCA40.
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spelling pubmed-85256622021-10-28 Spinocerebellar ataxia type 40: A case report and literature review Han, Fengyue Su, Dan Qu, Chuanqiang Transl Neurosci Case Report Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases with ataxia as the main clinical manifestation. The phenotypes, gene mutations, and involved sites of different subtypes show a high degree of heterogeneity. The incidence of SCA varies greatly among different subtypes and the case of SCA40 is extremely rare. The aim of this study is to report a rare case of SCA40 and systematically review the incidence, gene mutation, and phenotype of SCAs, especially SCA40. De Gruyter 2021-10-18 /pmc/articles/PMC8525662/ /pubmed/34721893 http://dx.doi.org/10.1515/tnsci-2020-0190 Text en © 2021 Fengyue Han et al., published by De Gruyter https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License.
spellingShingle Case Report
Han, Fengyue
Su, Dan
Qu, Chuanqiang
Spinocerebellar ataxia type 40: A case report and literature review
title Spinocerebellar ataxia type 40: A case report and literature review
title_full Spinocerebellar ataxia type 40: A case report and literature review
title_fullStr Spinocerebellar ataxia type 40: A case report and literature review
title_full_unstemmed Spinocerebellar ataxia type 40: A case report and literature review
title_short Spinocerebellar ataxia type 40: A case report and literature review
title_sort spinocerebellar ataxia type 40: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525662/
https://www.ncbi.nlm.nih.gov/pubmed/34721893
http://dx.doi.org/10.1515/tnsci-2020-0190
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AT sudan spinocerebellarataxiatype40acasereportandliteraturereview
AT quchuanqiang spinocerebellarataxiatype40acasereportandliteraturereview

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