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Article

Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.

Clinical genetics - 1 Jul 2024

Yao Li, Cao Yuwen, Zhang Chao, Huang Xiaojun, Tian Wotu, Cao Li

Abstract excerpt

Spastic paraplegia type 4 (SPG4), caused by SPAST mutations, is the most predominant subtype of hereditary spastic paraplegia. Most documented SPG4 patients present as pure form, with the complex form rarely reported. We described the clinical and genetic features of 20 patients with complex phenotypes of SPG4 and further explored the genotype-phenotype correlations. We collected detailed clinical data of all...

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Source

Identifiers

PMID: 38403837
DOI: 10.1111/cge.14510

Genes

SPAST

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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