[SORD-related hereditary neuropathies].
Les neuropathies héréditaires associées au gène SORD.
Journal
Medecine sciences : M/S
ISSN: 1958-5381
Titre abrégé: Med Sci (Paris)
Pays: France
ID NLM: 8710980
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
entrez:
8
12
2021
pubmed:
9
12
2021
medline:
11
3
2022
Statut:
ppublish
Résumé
Mutations in the SORD gene have recently been identified as a cause of autosomal Charcot-Marie-Tooth disease as well as the underlying defect in some cases of hereditary distal motoneuronopathies. Patients may be amenable to therapies in a near future.
Identifiants
pubmed: 34878391
doi: 10.1051/medsci/2021188
pii: medsci210188s
doi:
Types de publication
Journal Article
Langues
fre
Sous-ensembles de citation
IM
Pagination
30-31Informations de copyright
© 2021 médecine/sciences – Inserm.
Références
Cortese A, Wilcox JE, Polke JM, et al. Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease. Neurology 2020; 94 : e51–e61.
Ng DTF, Lee FK, Song ZT, et al. Effects of sorbitol dehydrogenase deficiency on nerve conduction in experimental diabetic mice. Diabetes 1998 ; 47 : 961–966.
Cortese A, Zhu Y, Rebelo AP, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 2020; 52 : 473–481.
Frasquet M, Rojas-García R, Argente-Escrig H, et al. Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation. Eur J Neurol 2021; 28 : 1334–1343.
Xie Y, Lin Z, Pakhrin PS, et al. Genetic and clinical features in 24 Chinese distal hereditary motor neuropathy families. Front Neurol 2020; 11 : 1–8.
Laššuthová P, Mazanec R, Staneˇk D, et al. Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients. Sci Rep 2021; 11 : 1–11.
Dong HL, Li JQ, Liu GL, et al. Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy. NPJ Genomic Med 2021; 6 (1).
Yuan RY, Ye ZL, Zhang XR, et al. Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease. Ann Clin Transl Neurol 2021; 8 : 266–270.
Safi SZ, Qvist R, Kumar S, et al. Molecular mechanisms of diabetic retinopathy, general preventive strategies, and novel therapeutic targets. Biomed Res Int 2014 ; 2014 : 801269.