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Article

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

Nature genetics - 1 Nov 2001

Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber C H, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink J K

Abstract excerpt

The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in approximately 42%), followed by that linked...

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Identifiers

PMID: 11685207
DOI: 10.1038/ng758

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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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