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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.

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