Spinocerebellar ataxia type 40: A case report and literature review-Reference-Cited by-同舟云学术

Spinocerebellar ataxia type 40: A case report and literature review

Published:2021-01-01 Issue:1 Volume:12 Page:379-384
ISSN:2081-6936
Container-title:Translational Neuroscience
language:en
Short-container-title:

Author:

Han Fengyue¹,Su Dan²,Qu Chuanqiang¹

Affiliation:

1. Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University , Jinan , Shandong, 250100 , China

2. Department of Neurology, Jinan Shizhong District People’s Hospital , Jinan , Shandong, 250100 , China

Abstract

Abstract 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.

Publisher

Walter de Gruyter GmbH

Subject

General Neuroscience

Link

https://www.degruyter.com/document/doi/10.1515/tnsci-2020-0190/pdf

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