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Article

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Journal of medical genetics - 1 Oct 2000

Lindsey J C, Lusher M E, McDermott C J, White K D, Reid E, Rubinsztein D C, Bashir R, Hazan J, Shaw P J, Bushby K M

Abstract excerpt

BACKGROUND: Hereditary spastic paraparesis is a genetically heterogeneous condition. Recently, mutations in the spastin gene were reported in families linked to the common SPG4 locus on chromosome 2p21-22. OBJECTIVES: To study a population of patients with hereditary spastic paraparesis for mutations in the spastin gene (SPG4) on chromosome 2p21-22. METHODS: DNA from 32 patients (12 from families known to be...

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

Share to Chromosomes, Human, Pair 2

Share to Genes, Recessive

Share to Paraparesis, Spastic

Share to Polymorphism, Single-Stranded Conformational

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Source

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Identifiers

PMID: 11015453
DOI: 10.1136/jmg.37.10.759
PMCID: PMC1757167

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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