Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene

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.

Keywords:

• Juvenile amyotrophic lateral sclerosis
• sorbitol deshydrogenase
• genetics
• motor neurone 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.