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

Emilien Bernard (1, 2) , Antoine Pegat (2) , Anne-Evelyne Vallet (3) , Pascal Leblanc (1) , Serge Lumbroso (4, 5) , Kevin Mouzat (4, 5) , Philippe Latour (6)

1 INMG - Institut NeuroMyoGène
2 Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL]
3 Université médicale de Vienne, Autriche
4 CHU Nîmes - Centre Hospitalier Universitaire de Nîmes
5 INM - Institut des Neurosciences de Montpellier
6 HCL - Hospices Civils de Lyon

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.

Mots clés: Juvenile amyotrophic lateral sclerosis; Genetics; Motor neurone disease; Sorbitol deshydrogenase

Domaines: Biochimie [q-bio.BM]; Biologie moléculaire; Biotechnologies; Génomique, Transcriptomique et Protéomique [q-bio.GN]; Organisation et fonctions cellulaires [q-bio.SC]; Interactions cellulaires [q-bio.CB]; Génétique humaine; Maladies infectieuses; Virologie; Neurobiologie; Génétique animale

Emilien Bernard, Antoine Pegat, Anne-Evelyne Vallet, Pascal Leblanc, Serge Lumbroso, et al.. Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021, pp.1-3. ⟨10.1080/21678421.2021.1998538⟩. ⟨hal-03424383⟩