Pons Nicolas, Gorka Fernández-Eulate, Antoine Pegat, Marie Théaudin, Guieu Régis, Paolo Ripellino, Devedjian Manon, Mace Patrick, Marion Masingue, Sarah Léonard-Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Bouchour Françoise, Good Jean-Marc, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Salort, Grosset Anaïs, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Anne-Laure Bédat-Millet, Ariane Choumert, Barnier Anne, Hamdi Ghassen, Gaëtan Lesca, Prieur Fabienne, Bruneel Arnaud, Philippe Latour, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello-Palot
BACKGROUND: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) depicting lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants. METHODS: Patients followed in neuromuscular reference centres in France and Switzerland were ascertained...
March 21, 2023: European Journal of Neurology