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Article

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.

Journal of the neurological sciences - 15 Dec 2013

Zhao Wei, Zhu Qing-Yan, Zhang Jia-Tang, Liu Hui, Wang Li-Juan, Chen Zhi-Qiang, Guan Li-Ping, Huang Xu-Sheng, Yang Ling, Yu Sheng-Yuan

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive weakness and spasticity of the lower limbs, in complicated forms, with additional neurological signs. To identify the genotype and characterize the phenotype in a Chinese HSP family, ten subjects from the family were examined through detailed clinical evaluations, auxiliary examinations and genetic tests. Using a...

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Source

Identifiers

PMID: 24090761
DOI: 10.1016/j.jns.2013.09.004

Genes

SPG11

Variants

Provenance

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

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