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Article

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Journal of the neurological sciences - 15 Sept 2009

Svenstrup Kirsten, Bross Peter, Koefoed Pernille, Hjermind Lena E, Eiberg Hans, Born A Peter, Vissing John, Gyllenborg Jesper, Nørremølle Anne, Hasholt Lis, Nielsen Jørgen E

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs. The most common forms of autosomal dominant HSP, SPG4 and SPG3, are caused by sequence variants in the SPAST and SPG3A genes, respectively. The pathogenic variants are scattered all over these genes and many variants are...

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Identifiers

PMID: 19423133
DOI: 10.1016/j.jns.2009.04.024

Genes

HSPD1
SPAST

Variants

Provenance

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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