Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.

ABSTRACT:

Background and purpose

Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) are known to cause Charcot-Marie-Tooth disease (CMT). These mutations are very rare in most countries, but not in certain Mediterranean countries. The purpose of this study was to identify the clinical and neuroimaging characteristics of Korean CMT patients with GDAP1 mutations.

Methods

Gene sequencing was applied to 1,143 families in whom CMT had been diagnosed from 2005 to 2020. PMP22 duplication was found in 344 families, and whole-exome sequencing was performed in 699 patients. Magnetic resonance imaging (MRI) were obtained using either a 1.5-T or 3.0-T MRI system.

Results

We found ten patients from eight families with GDAP1 mut

SUBMITTER: Kim HS 

PROVIDER: S-EPMC7840330 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature