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Article

Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.

Neurology - 26 Dec 2000

McMonagle P, Byrne P C, Fitzgerald B, Webb S, Parfrey N A, Hutchinson M

Abstract excerpt

BACKGROUND: "Pure" autosomal dominant hereditary spastic paraparesis (AD-HSP) is clinically and genetically heterogeneous. There are at least seven genetic loci with varying ages at onset and disability. The SPAST gene at the SPG4 locus on chromosome 2p is the major disease gene for AD-HSP. OBJECTIVES: To investigate whether there are distinct clinical features among families with AD-HSP due to SPAST mutations...

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Share to Adenosine Triphosphatases
Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Paraparesis, Spastic

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Source

Identifiers

PMID: 11134375
DOI: 10.1212/wnl.55.12.1794

Genes

SPAST

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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