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.
Acknowledgment
We thank Hélène Boyer (DRCI, Hospices Civils de Lyon) for the help in manuscript preparation
Declaration of interest
The authors report no conflict of interest. The authors alone are responsible for the content and writing of the manuscript.