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

ABSTRACT:

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 patients with HSP or CMT2 with pyramidal signs were sequenced for all exons of KIF5A by targeted resequencing. One additional patient was genetically diagnosed by whole-exome sequencing.

Results

Five KIF5A mutations were identified in 6 unrelated patients: R204W and D232N were novel mutations; R204Q, R280C, and R280H have been previously reported. Three patients h

SUBMITTER: Liu YT 

PROVIDER: S-EPMC4141994 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature