Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene
E Bernard, Antoine Pégat, Anne‐Evelyne Vallet, Pascal Leblanc, Serge Lumbroso, Kévin Mouzat, Philippe Latour
Abstract
Mutation in the sorbitol dehydrogenase gene (SORD) has been recently described to cause axonal Charcot-Marie-Tooth disease (CMT), intermediate CMT, and distal hereditary motor neuropathy (dHMN). We herein report the case of a 24-year-old patient diagnosed with juvenile amyotrophic lateral sclerosis (JALS) who carried the homozygous c.757delG mutation in SORD. No other pathogenic variant in frequent JALS-causative genes was found. Our findings expand the phenotype related to SORD mutation, a new and potentially treatable genetic disease.
Topics & Concepts
Amyotrophic lateral sclerosisMutationSorbitol dehydrogenasePhenotypeGeneGeneticsDiseaseGene mutationMedicineBiologySorbitolPathologyBiochemistryAmyotrophic Lateral Sclerosis ResearchEndoplasmic Reticulum Stress and DiseaseNeurological diseases and metabolism