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Article

Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.

Journal of the neurological sciences - 15 Dec 2014

Lu Xingjiao, Cen Zhidong, Xie Fei, Ouyang Zhiyuan, Zhang Baorong, Zhao Guohua, Luo Wei

Abstract excerpt

Hereditary spastic paraplegia (HSP or SPG) is a group of genetically and clinically heterogeneous neurodegenerative disorders. At least 52 different gene loci have been identified so far, involving autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and maternal inheritance. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes are responsible for about 50% of pure AD-HSP patients. In this study,...

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Source

Identifiers

PMID: 25454648
DOI: 10.1016/j.jns.2014.10.017

Genes

SPAST
ATL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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