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Article

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

Human mutation - 1 Feb 2009

Goizet Cyril, Boukhris Amir, Mundwiller Emeline, Tallaksen Chantal, Forlani Sylvie, Toutain Annick, Carriere Nathalie, Paquis Véronique, Depienne Christel, Durr Alexandra, Stevanin Giovanni, Brice Alexis

Abstract excerpt

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. Only a few different mutations in the SPG10 gene, KIF5A, have been described in pure dominant forms of the disease. We sequenced the motor domain of KIF5A in a large panel of 205 European HSP patients with either pure or complicated forms of...

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Identifiers

PMID: 18853458
DOI: 10.1002/humu.20920

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

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