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Article

A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype.

Journal of clinical neuromuscular disease - 1 Mar 2015

Rinaldi Fabrizio, Bassi Maria T, Todeschini Alice, Rota Silvia, Arnoldi Alessia, Padovani Alessandro, Filosto Massimiliano

Abstract excerpt

SPG10 is an autosomal dominant hereditary spastic paraplegia (HSP) caused by mutations in the gene KIF5A encoding the heavy chain of kinesin, a motor protein implied in motility functions within cells. Most of the KIF5A mutations are clustered in 2 areas of motor domain of the protein, the switch regions I and II, that are necessary for microtubules interaction. The set of mutations in KIF5A described so far...

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PMID: 25695920
DOI: 10.1097/CND.0000000000000063

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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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