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Article

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

Journal of neurology - 1 Jul 2013

de Bot Susanne T, Vermeer Sascha, Buijsman Wendy, Heister Angelien, Voorendt Marsha, Verrips Aad, Scheffer Hans, Kremer Hubertus P H, van de Warrenburg Bart P C, Kamsteeg Erik-Jan

Abstract excerpt

SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 families described so far. Our purpose was to screen for KIAA0196 (SPG8) mutations in AD-HSP patients and to investigate their phenotype. Extensive family investigation was performed after positive KIAA0196 mutation analysis, which was part of an on-going mutation screening effort in AD-HSP patients. A novel pathogenic...

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Identifiers

PMID: 23455931
DOI: 10.1007/s00415-013-6870-x

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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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