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Article

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

American journal of human genetics - 1 May 2001

Svenson I K, Ashley-Koch A E, Gaskell P C, Riney T J, Cumming W J, Kingston H M, Hogan E L, Boustany R M, Vance J M, Nance M A, Pericak-Vance M A, Marchuk D A

Abstract excerpt

Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs. It is caused by mutations in the gene encoding spastin, a member of the AAA family of ATPases. We have screened the spastin gene for mutations in 15 families consistent with linkage to the...

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Identifiers

PMID: 11309678
DOI: 10.1086/320111
PMCID: PMC1226088

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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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