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Article

A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.

Molecular biology reports - 4 Sept 2024

Jin Yu-Han, Xiang Yang-Ziyu, Zhao Mei-Fang, Liu Yi-Hui, Fan Liang-Liang, Li Xiao-Cong

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) represents a group of monogenic neurodegenerative disorders characterized by high clinical and genetic heterogeneity. HSP is characterized by slowly progressing hypertonia of both lower extremities, spastic gait, and myasthenia. The most prevalent autosomal dominant form of HSP, known as spastic paraplegia 4 (SPG4), is attributed to variants in the spastin (SPAST)...

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Source

Identifiers

PMID: 39230614
DOI: 10.1007/s11033-024-09880-0

Genes

SPAST

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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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A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.PMID 39230614Read ↗

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