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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Autores principales:	Han Fengyue, Su Dan, Qu Chuanqiang
Formato:	article
Lenguaje:	EN
Publicado:	De Gruyter 2021
Materias:	spinocerebellar ataxia polyglutamine diseases genotype–phenotype correlations Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/d25a2acbd33048d18c023f993fe7ffef
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spelling	oai:doaj.org-article:d25a2acbd33048d18c023f993fe7ffef2021-12-05T14:11:05ZSpinocerebellar ataxia type 40: A case report and literature review2081-693610.1515/tnsci-2020-0190https://doaj.org/article/d25a2acbd33048d18c023f993fe7ffef2021-10-01T00:00:00Zhttps://doi.org/10.1515/tnsci-2020-0190https://doaj.org/toc/2081-6936Spinocerebellar 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.Han FengyueSu DanQu ChuanqiangDe Gruyterarticlespinocerebellar ataxiapolyglutamine diseasesgenotype–phenotype correlationsNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENTranslational Neuroscience, Vol 12, Iss 1, Pp 379-384 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	spinocerebellar ataxia polyglutamine diseases genotype–phenotype correlations Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	spinocerebellar ataxia polyglutamine diseases genotype–phenotype correlations Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Han Fengyue Su Dan Qu Chuanqiang Spinocerebellar ataxia type 40: A case report and literature review
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.
format	article
author	Han Fengyue Su Dan Qu Chuanqiang
author_facet	Han Fengyue Su Dan Qu Chuanqiang
author_sort	Han Fengyue
title	Spinocerebellar ataxia type 40: A case report and literature review
title_short	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_sort	spinocerebellar ataxia type 40: a case report and literature review
publisher	De Gruyter
publishDate	2021
url	https://doaj.org/article/d25a2acbd33048d18c023f993fe7ffef
work_keys_str_mv	AT hanfengyue spinocerebellarataxiatype40acasereportandliteraturereview AT sudan spinocerebellarataxiatype40acasereportandliteraturereview AT quchuanqiang spinocerebellarataxiatype40acasereportandliteraturereview
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Spinocerebellar ataxia type 40: A case report and literature review

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