Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features.

ABSTRACT:

Introduction

Giant axonal neuropathy (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and genetic features in three new unrelated patients with GAN.

Methods

Three pediatric patients with suspected GAN were included. The diagnosis was considered in patients with early onset polyneuropathy and characteristic hair with central nervous system involvement or suggestive neuroimaging findings. Biochemical, metabolic and electrophysiological investigations were performed. Diagnosis was confirmed by targeted sequencing of the GAN gene.

Results

All the three patients were found to have biallelic mutations in GAN gene. Periphera

SUBMITTER: Garg M 

PROVIDER: S-EPMC6238561 | biostudies-literature | 2018 Oct-Dec

REPOSITORIES: biostudies-literature