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Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

Parkinsonism & related disorders - 1 Aug 2014

Wei Qian-Qian, Chen YongPing, Zheng Zhen-Zhen, Chen XuePing, Huang Rui, Yang Yuan, Burgunder JeanMarc, Shang Hui-Fang

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative diseases. Mutations in the spastin (SPAST) gene are the most common cause of pure HSP. However, few data are available regarding the clinical and genetic spectrum of HSP among Chinese patients. METHODS: Clinical data were collected at diagnosis and follow-up of 42 Chinese patients with pure...

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Source

Identifiers

PMID: 24824479
DOI: 10.1016/j.parkreldis.2014.04.021

Genes

SPAST

Variants

Provenance

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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