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

Autor: Pons N; Département de Génétique Médicale, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille, Marseille, France.; Laboratory of Biochemistry, Timone Hospital, Marseille, France., Fernández-Eulate G; Nord/Est/Ile-de-France Neuromuscular Reference Centre, Pitié-Salpêtrière Hospital, Paris, France., Pegat A; Service ENMG (ElectroNeuroMyoGraphie) et Pathologies Neuromusculaire, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Lyon, France.; Centre SLA (Sclérose Latérale Amyotrophique) de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, Bron, France.; Institut NeuroMyoGène, Université Lyon 1, CNRS UMR 5310, INSERM U1217, Lyon, France., Théaudin M; Department of Clinical Neurosciences, Service of Neurology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Guieu R; Laboratory of Biochemistry, Timone Hospital, Marseille, France., Ripellino P; Neurology Department, Neurocentre of Southern Switzerland EOC, Lugano, Switzerland., Devedjian M; Département de Génétique Médicale, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille, Marseille, France., Mace P; Laboratory of Biochemistry, Timone Hospital, Marseille, France., Masingue M; Nord/Est/Ile-de-France Neuromuscular Reference Centre, Pitié-Salpêtrière Hospital, Paris, France., Léonard-Louis S; Nord/Est/Ile-de-France Neuromuscular Reference Centre, Pitié-Salpêtrière Hospital, Paris, France., Petiot P; Service ENMG (ElectroNeuroMyoGraphie) et Pathologies Neuromusculaire, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Lyon, France., Roche P; Service ENMG (ElectroNeuroMyoGraphie) et Pathologies Neuromusculaire, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Lyon, France., Bernard E; Service ENMG (ElectroNeuroMyoGraphie) et Pathologies Neuromusculaire, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Lyon, France.; Centre SLA (Sclérose Latérale Amyotrophique) de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, Bron, France.; Institut NeuroMyoGène, Université Lyon 1, CNRS UMR 5310, INSERM U1217, Lyon, France., Bouhour F; Service ENMG (ElectroNeuroMyoGraphie) et Pathologies Neuromusculaire, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Lyon 1, CNRS UMR 5310, INSERM U1217, Lyon, France., Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Verschueren A; Referral Centre for Neuromuscular Diseases and ALS (Amyotrophic Lateral Sclerosis), Timone University Hospital, Marseille, France., Grapperon AM; Referral Centre for Neuromuscular Diseases and ALS (Amyotrophic Lateral Sclerosis), Timone University Hospital, Marseille, France., Salort E; Referral Centre for Neuromuscular Diseases and ALS (Amyotrophic Lateral Sclerosis), Timone University Hospital, Marseille, France., Grosset A; Referral Centre for Neuromuscular Diseases, Nancy University Hospital, Nancy, France., Chanson JB; Neurology Department, and Nord/Est/Ile de France Neuromuscular Reference Centre, Strasbourg University Hospital, Strasbourg, France., Nadaj-Pakleza A; Neurology Department, and Nord/Est/Ile de France Neuromuscular Reference Centre, Strasbourg University Hospital, Strasbourg, France., Bédat-Millet AL; Service of Neurophysiology, University Hospital Charles Nicolle of Rouen, Rouen, France., Choumert A; Department of Rare Neurological Diseases, CHU de la Réunion, Saint-Pierre, France., Barnier A; Metabolic and Cellular Biochemistry Department, AP-HP, Bichat Hospital, Paris, France., Hamdi G; Metabolic and Cellular Biochemistry Department, AP-HP, Bichat Hospital, Paris, France., Lesca G; Department of Genetics, University Hospitals of Lyon, Lyon, France.; Université Lyon, Université Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, Lyon, France., Prieur F; CHU de St. Etienne, Hôpital Nord, Service de Génétique Médicale, Saint-Etienne, France., Bruneel A; Metabolic and Cellular Biochemistry Department, AP-HP, Bichat Hospital, Paris, France., Latour P; Institut NeuroMyoGène, Université Lyon 1, CNRS UMR 5310, INSERM U1217, Lyon, France.; UF Pathologies Neurologiques Héréditaires (UF 34427), Centre de Biologie et Pathologie Est, Service de Biochimie Biologie Moléculaire Grande Est, Hospices Civils de Lyon, Lyon, France., Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Reference Centre, Pitié-Salpêtrière Hospital, Paris, France., Attarian S; Referral Centre for Neuromuscular Diseases and ALS (Amyotrophic Lateral Sclerosis), Timone University Hospital, Marseille, France., Bonello-Palot N; Département de Génétique Médicale, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille, Marseille, France.; Aix-Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
Jazyk: angličtina
Zdroj: European journal of neurology [Eur J Neurol] 2023 Jul; Vol. 30 (7), pp. 2001-2011. Date of Electronic Publication: 2023 Apr 04.
DOI: 10.1111/ene.15793
Abstrakt: Background and Purpose: 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) resulting in 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 at neuromuscular reference centres in France and Switzerland were ascertained. Sanger sequencing and next generation sequencing were performed to sequence SORD, and mass spectrometry was used to measure patients' serum sorbitol.
Results: Thirty patients had SORD peripheral neuropathy associating LL weakness with muscular atrophy, foot deformities (87%), and sometimes proximal LL weakness (20%) or distal upper limb weakness (50%). Eighteen had dHMN, nine had CMT2, and three had intermediate CMT. Most of them had a mild or moderate disease severity. Sixteen carried a homozygous c.757delG (p.Ala253Glnfs*27) variant, and 11 carried compound heterozygous variants, among which four variants were not yet reported: c.403C > G, c.379G > A, c.68_100 + 1dup, and c.850dup. Two unrelated patients with different origins carried a homozygous c.458C > A variant, and one patient carried a new homozygous c.786 + 5G > A variant. Mean serum sorbitol levels were 17.01 mg/L ± 8.9 SD for patients carrying SORD variants.
Conclusions: 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.
(© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)
Databáze: MEDLINE
Externí odkaz: