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Article

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

European journal of neurology - 1 Oct 2008

Paisan-Ruiz C, Nath P, Wood N W, Singleton A, Houlden H

Abstract excerpt

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex hereditary spastic paraplegia classified as SPG11. Recently mutations on SPG11 gene (KIAA1840), which is localized to chromosome 15q13-q15, were shown to cause the majority of SPG11 cases. METHODS: We analysed the 40 coding exons of this gene in the probands from eight...

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Identifiers

PMID: 18717728
DOI: 10.1111/j.1468-1331.2008.02247.x
PMCID: PMC7254873

Genes

SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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