Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth disease.

ABSTRACT:

Objectives

To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL).

Methods

Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature.

Results

Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified. Combined data from these cases and 62 kindreds from the literature revealed four common mutations (P8R, P22S, N98S and E396K) and three mutational hotspots accounting for 37 (55%) and 50 (75%) kindreds, respectively. Eight patients had de novo mutations. Loss of large-myelinated fibres was a uniform feature in a to

SUBMITTER: Horga A 

PROVIDER: S-EPMC5580821 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature