SORD-related peripheral neuropathy in a French and Swiss cohort: clinical features, genetic analysis and sorbitol dosage.
Pons NicolasGorka Fernández-EulateAntoine PegatMarie ThéaudinGuieu RégisPaolo RipellinoDevedjian ManonMace PatrickMarion MasingueSarah Léonard-LouisPhilipe PetiotPauline RocheEmilien BernardBouchour FrançoiseGood Jean-MarcAnnie VerschuerenAude-Marie GrapperonEmmanuelle SalortGrosset AnaïsJean-Baptiste ChansonAleksandra Nadaj-PaklezaAnne-Laure Bédat-MilletAriane ChoumertBarnier AnneHamdi GhassenGaëtan LescaPrieur FabienneBruneel ArnaudPhilippe LatourTanya StojkovicShahram AttarianNathalie Bonello-PalotPublished in: European journal of neurology (2023)
This SORD-inherited peripheral neuropathy cohort of 30 patients shows homogeneous clinical presentation and systematically elevated sorbitol levels (22-fold) compared to controls with both diagnostic and potential therapeutic implications.