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Article

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.

Journal of the neurological sciences - 15 Apr 2020

Xia Zheng-Cai, Liu Zhen-Hua, Zhou Xiao-Xia, Liu Zhen, Wang Jun-Ling, Hu Zheng-Mao, Tan Jie-Qiong, Shen Lu, Jiang Hong, Tang Bei-Sha, Lei Li-Fang

Abstract excerpt

BACKGROUND: Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). To investigate the role of CAPN1 in spastic paraplegia and other neurodegenerative diseases, including spinocerebellar ataxia (SCA), early-onset Parkinson's disease (EOPD), and amyotrophic lateral sclerosis (ALS) we conducted a mutation analysis of CAPN1 in a cohort...

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Identifiers

PMID: 31982778
DOI: 10.1016/j.jns.2020.116691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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