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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...

Topics

Adult
Asian People
Corpus Callosum
DNA Mutational Analysis
Exons
Family Health
Female
Genes, Recessive
Heterozygote
Humans
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mental Status Schedule

Mutation

Proteins

Spastic Paraplegia, Hereditary

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 31 Aug 2026.

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Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.PMID 24090761Read ↗

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