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Article

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

American journal of human genetics - 1 Jan 2007

Valdmanis Paul N, Meijer Inge A, Reynolds Annie, Lei Adrienne, MacLeod Patrick, Schlesinger David, Zatz Mayana, Reid Evan, Dion Patrick A, Drapeau Pierre, Rouleau Guy A

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eighth HSP locus, SPG8, is on chromosome 8p24.13. The three families previously linked to the SPG8 locus present with relatively severe, pure spastic paraplegia. We have identified three mutations in t...

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Share to Chromosomes, Human, Pair 8
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17160902
DOI: 10.1086/510782
PMCID: PMC1785307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17160902-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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