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Article

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

Neurology - 14 Mar 2006

Elleuch N, Depienne C, Benomar A, Hernandez A M Ouvrard, Ferrer X, Fontaine B, Grid D, Tallaksen C M E, Zemmouri R, Stevanin G, Durr A, Brice A

Abstract excerpt

BACKGROUND: Mutations in the SPG7 gene, which encodes paraplegin, are responsible for an autosomal recessive hereditary spastic paraplegia (HSP). OBJECTIVE: To screen the SPG7 gene in a large population of HSP families compatible with autosomal recessive transmission. METHODS: The authors analyzed 136 probands with pure or complex HSP for mutations in the SPG7 using denaturation high-performance liquid...

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Source

Identifiers

PMID: 16534102
DOI: 10.1212/01.wnl.0000201185.91110.15

Genes

SPG7

Variants

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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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