{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T11:56:49Z","timestamp":1792238209692,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T00:00:00Z","timestamp":1680566400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and purpose<\/jats:title>\n                    <jats:p>\n                      Biallelic variants in\n                      <jats:italic>SORD<\/jats:italic>\n                      have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot\u2013Marie\u2013Tooth 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\n                      <jats:italic>SORD<\/jats:italic>\n                      \u2010related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify\n                      <jats:italic>SORD<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Patients followed at neuromuscular reference centres in France and Switzerland were ascertained. Sanger sequencing and next generation sequencing were performed to sequence\n                      <jats:italic>SORD<\/jats:italic>\n                      , and mass spectrometry was used to measure patients' serum sorbitol.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Thirty patients had\n                      <jats:italic>SORD<\/jats:italic>\n                      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\u2009&gt;\u2009G, c.379G\u2009&gt;\u2009A, c.68_100\u2009+\u20091dup, and c.850dup. Two unrelated patients with different origins carried a homozygous c.458C\u2009&gt;\u2009A variant, and one patient carried a new homozygous c.786\u2009+\u20095G\u2009&gt;\u2009A variant. Mean serum sorbitol levels were 17.01\u2009mg\/L\u2009\u00b1\u20098.9 SD for patients carrying\n                      <jats:italic>SORD<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This\n                      <jats:italic>SORD<\/jats:italic>\n                      \u2010inherited peripheral neuropathy cohort of 30 patients showed homogeneous clinical presentation and systematically elevated sorbitol levels (22\u2010fold) compared to controls, with both diagnostic and potential therapeutic implications.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.15793","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T10:24:28Z","timestamp":1679394268000},"page":"2001-2011","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<scp>\n                      <i>SORD<\/i>\n                    <\/scp>\n                    \u2010related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1691-3915","authenticated-orcid":false,"given":"Nicolas","family":"Pons","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Timone Enfants Assistance Publique H\u00f4pitaux de Marseille  Marseille France"},{"name":"Laboratory of Biochemistry Timone Hospital  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorka","family":"Fern\u00e1ndez\u2010Eulate","sequence":"additional","affiliation":[{"name":"Nord\/Est\/Ile\u2010de\u2010France Neuromuscular Reference Centre Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1563-9432","authenticated-orcid":false,"given":"Antoine","family":"Pegat","sequence":"additional","affiliation":[{"name":"Service ENMG (ElectroNeuroMyoGraphie) et Pathologies Neuromusculaire H\u00f4pital Neurologique P. 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