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Article

Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia.

Neuroscience letters - 24 Aug 2023

Chen Xiaohong, Li Xinming, Tan Yu, Yang Dejiang, Lu Lijun, Deng Youqing, Xu Renshi

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia 4 (SPG4) caused by spastin (SPAST) gene mutations accounts for 40-45% of hereditary spastic paraplegia (HSP) cases. To search for more genetic evidences for the pathogenesis of HSP, the SPAST genotype and clinical phenotype of a Chinese Han SPG4 family were analysed in this study. METHODS: The clinical data of the proband and his family members were collected. Whole...

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Identifiers

PMID: 37473796
DOI: 10.1016/j.neulet.2023.137399

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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