Translational Neuroscience (Oct 2021)

Spinocerebellar ataxia type 40: A case report and literature review

  • Han Fengyue,
  • Su Dan,
  • Qu Chuanqiang

DOI
https://doi.org/10.1515/tnsci-2020-0190
Journal volume & issue
Vol. 12, no. 1
pp. 379 – 384

Abstract

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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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