{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T07:52:06Z","timestamp":1776239526588,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:00:00Z","timestamp":1692662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171172"],"award-info":[{"award-number":["82171172"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771366"],"award-info":[{"award-number":["81771366"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>Biallelic variants in the sorbitol dehydrogenase (<jats:italic>SORD<\/jats:italic>) gene have been identified as the genetic cause of autosomal recessive (AR) peripheral neuropathy (PN) manifesting as Charcot\u2013Marie\u2013Tooth disease type 2 (CMT2) or distal hereditary motor neuropathy (dHMN). We aim to observe the genetic and clinical spectrum of a cohort of patients with SORD\u2010related PN (SORD\u2010PN).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 107 patients with AR or sporadic CMT2\/dHMN underwent molecular diagnosis by whole\u2010exome sequencing and subsequent Sanger sequencing validation. Available phenotypic data for SORD\u2010PN were collected and analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eleven (10.28%) of 107 patients were identified as SORD\u2010PN, including four with CMT2 and seven with dHMN. The <jats:italic>SORD<\/jats:italic> variant c.210\u2009T\u2009&gt;\u2009G;p.His70Gln in F\u2010d3 was firstly reported and subsequent analysis showed that it resulted in loss of SORD enzyme function. Evidence of subclinical muscle involvement was frequently detected in patients with SORD\u2010PN, including mildly to moderately elevated serum creatine kinase (CK) levels in 10 patients, myogenic electrophysiological changes in one patient, and muscle edema in five patients undergoing lower extremity MRI. Fasting serum sorbitol level was 88\u2010fold higher in SORD\u2010PN patients (9.69\u2009\u00b1\u20091.07\u2009mg\/L) than in healthy heterozygous subjects (0.11\u2009\u00b1\u20090.01\u2009mg\/L) and 138\u2010fold higher than in healthy controls (0.07\u2009\u00b1\u20090.02\u2009mg\/L).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The novel <jats:italic>SORD<\/jats:italic> variant c.210\u2009T\u2009&gt;\u2009G;p.His70Gln and evidence of subclinical muscle involvement were identified, which expanded the genetic and clinical spectrum of SORD\u2010PN. Subclinical muscle involvement might be a common but easily overlooked clinical feature. The serum CK and fasting serum sorbitol levels were expected to be sensitive biomarkers confirmed by follow\u2010up cohort study.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12591","type":"journal-article","created":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T16:13:01Z","timestamp":1692202381000},"page":"608-613","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expanding the genetic and clinical spectrum of <scp>SORD<\/scp>\u2010related peripheral neuropathy by reporting a novel variant c.<scp>210T<\/scp>&gt;G and evidence of subclinical muscle involvement"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-6167-3765","authenticated-orcid":false,"given":"Lu","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha 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