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Article

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Neurogenetics - 1 Oct 2010

Southgate Laura, Dafou Dimitra, Hoyle Jacqueline, Li Nan, Kinning Esther, Critchley Peter, Németh Andrea H, Talbot Kevin, Bindu Parayil S, Sinha Sanjib, Taly Arun B, Raghavendra Seetharam, Müller Ferenc, Maher Eamonn R, Trembath Richard C

Abstract excerpt

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) maps to the SPG11 locus in the majority of cases. Mutations in the KIAA1840 gene, encoding spatacsin, have been shown to underlie SPG11-linked HSP-TCC. The aim of this study was to perform candidate gene analysis in HSP-TCC subjects from Asian families and to characterize disruption of spatacsin function during zebrafish...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20390432
DOI: 10.1007/s10048-010-0243-8
PMCID: PMC2944959

Genes

SPG11
SPG21

Variants

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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