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Article

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.

BMC neurology - 3 Jan 2020

Chen Xueping, Liu Jiao, Wei Qian-Qian, Ou Ru Wei, Cao Bei, Yuan Xiaoqin, Hou Yanbing, Zhang Lingyu, Shang Huifang

Abstract excerpt

BACKGROUND: Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. METHODS: Targeted next-generation sequencing was performed on the patients to identify disease-causing mutations. Variants were analyzed...

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Identifiers

PMID: 31900114
DOI: 10.1186/s12883-019-1593-y
PMCID: PMC6941247

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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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