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Article

[Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2010

Rudenskaia G E, Sermiagina I G, Illarioshkin S N, Sidorova O P, Fedotov V P, Poliakov A V

Abstract excerpt

Hereditary spastic paraplegia (HSP), type 4, or SPG4, caused by various mutations in the spastin gene (SPAST) is the most common disorder in a heterogeneous group of autosomal dominant HSP's. We performed a search of SPAST mutations by routine methods (SSCP and subsequent direct sequencing of fragments with modified electrophoretic mobility) in a sample of 26 families with autosomal dominant HSP from different...

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Source

Identifiers

PMID: 20559269

Genes

SPAST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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