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

Amyotroph Lateral Scler Frontotemporal Degener. 2022 Aug;23(5-6):473-475. doi: 10.1080/21678421.2021.1998538. Epub 2021 Nov 9.


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; genetics; motor neurone disease; sorbitol deshydrogenase.

Publication types

  • Case Reports

MeSH terms

  • Amyotrophic Lateral Sclerosis* / diagnosis
  • Amyotrophic Lateral Sclerosis* / genetics
  • Charcot-Marie-Tooth Disease* / diagnosis
  • Charcot-Marie-Tooth Disease* / genetics
  • Humans
  • L-Iditol 2-Dehydrogenase / genetics
  • Mutation / genetics
  • Sorbitol


  • Sorbitol
  • L-Iditol 2-Dehydrogenase