SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

Nicolas Pons,Gorka Fernández-Eulate,Antoine Pegat,Marie Théaudin,Régis Guieu,Paolo Ripellino, Manon Devedjian, Patrick Mace,Marion Masingue,Sarah Léonard-Louis, Philipe Petiot,Pauline Roche,Emilien Bernard,Françoise Bouhour,Jean-Marc Good,Annie Verschueren,Aude-Marie Grapperon,Emmanuelle Salort, Anaïs Grosset,Jean-Baptiste Chanson,Aleksandra Nadaj-Pakleza,Anne-Laure Bédat-Millet, Ariane Choumert, Anne Barnier,Ghassen Hamdi,Gaëtan Lesca,Fabienne Prieur,Arnaud Bruneel,Philippe Latour,Tanya Stojkovic,Shahram Attarian,Nathalie Bonello-Palot

European journal of neurology（2023）

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摘要

This SORD-inherited peripheral neuropathy cohort of 30 patients showed homogeneous clinical presentation and systematically elevated sorbitol levels (22-fold) compared to controls, with both diagnostic and potential therapeutic implications.

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关键词

SORD ,Charcot-Marie-Tooth,muscular atrophy,neuropathy,peripheral neuropathy

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