E-viri
Recenzirano
Odprti dostop
-
Pons, Nicolas; Fernández‐Eulate, Gorka; Pegat, Antoine; Théaudin, Marie; Guieu, Régis; Ripellino, Paolo; Devedjian, Manon; Mace, Patrick; Masingue, Marion; Léonard‐Louis, Sarah; Petiot, Philipe; Roche, Pauline; Bernard, Emilien; Bouhour, Françoise; Good, Jean‐Marc; Verschueren, Annie; Grapperon, Aude‐Marie; Salort, Emmanuelle; Grosset, Anaïs; Chanson, Jean‐Baptiste; Nadaj‐Pakleza, Aleksandra; Bédat‐Millet, Anne‐Laure; Choumert, Ariane; Barnier, Anne; Hamdi, Ghassen; Lesca, Gaëtan; Prieur, Fabienne; Bruneel, Arnaud; Latour, Philippe; Stojkovic, Tanya; Attarian, Shahram; Bonello‐Palot, Nathalie
European journal of neurology, July 2023, Letnik: 30, Številka: 7Journal Article
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.
Avtor
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.