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Article

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.

Molecular medicine reports - 1 Apr 2023

Wang Xing-Chen, Liu Rui-Han, Wang Ting, Wang Yanling, Jiang Yan, Chen Dan-Dan, Wang Xin-Yu, Hou Tong-Shu, Kong Qing-Xia

Abstract excerpt

Hereditary spastic paraplegia (HSP) comprises a group of hereditary and neurodegenerative diseases that are characterized by axonal degeneration or demyelination of bilateral corticospinal tracts in the spinal cord; affected patients exhibit progressive spasticity and weakness in the lower limbs. The most common manifestation of HSP is spastic paraplegia type 4 (SPG4), which is caused by mutations in the spastin...

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Mutation
Mutation, Missense
Paraplegia
Spastic Paraplegia, Hereditary
Spastin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36825575
DOI: 10.3892/mmr.2023.12966
PMCID: PMC10018243

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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