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Article

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Neurology - 12 Aug 2014

Liu Yo-Tsen, Laurá Matilde, Hersheson Joshua, Horga Alejandro, Jaunmuktane Zane, Brandner Sebastian, Pittman Alan, Hughes Deborah, Polke James M, Sweeney Mary G, Proukakis Christos, Janssen John C, Auer-Grumbach Michaela, Zuchner Stephan, Shields Kevin G, Reilly Mary M, Houlden Henry

Abstract excerpt

OBJECTIVE: To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with hereditary spastic paraplegia (HSP) or typical Charcot-Marie-Tooth disease type 2 (CMT2). METHODS: KIF5A sequencing of the motor-domain coding exons was performed in 186 patients with the clinical diagnosis of HSP and in 215 patients with typical CMT2. Another 66...

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PMID: 25008398
DOI: 10.1212/WNL.0000000000000691
PMCID: PMC4141994

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Source receipt: pubmed, retrieved 7 Sept 2026.

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