LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.

ABSTRACT: Currently only 25-30% of patients with axonal forms of Charcot-Marie-Tooth disease (CMT) receive a genetic diagnosis. We aimed to identify the causative gene of CMT type 2 in 8 non-related French families with a distinct clinical phenotype. We collected clinical, electrophysiological, and laboratory findings and performed genetic analyses in four different French laboratories. Seventy-two patients with autosomal dominant inheritance were identified. The disease usually started in the fourth decade and the clinical picture was dominated by sensory ataxia (80%), neuropathic pain (38%), and length-dependent sensory loss to all modalities. Electrophysiological studies showed a primarily axonal neuropathy, with possible isolated sensory involvement in milder phenotypes. Disease severity varied

SUBMITTER: Peretti A 

PROVIDER: S-EPMC6777460 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature