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Article

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.

European journal of neurology - 1 Feb 2013

Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Dürr A, Stevanin G, Leguern E, Brice A, Labauge P, de Seze J

Abstract excerpt

BACKGROUND: SPG10 is a rare form of autosomic dominant hereditary spastic paraplegia (HSP) caused by mutations in the KIF5A gene, which may be involved in axonal transport. METHODS: We report the characteristics of a French family with a novel missense mutation c.580 G>C in exon 7 of the KIF5A gene. RESULTS: The proband and his sister presented with an adult onset HSP, a sensory spinal cord-like syndrome,...

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Identifiers

PMID: 22788249
DOI: 10.1111/j.1468-1331.2012.03803.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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