{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:48:55Z","timestamp":1787237335195,"version":"build-2736575974"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2025,6,21]],"date-time":"2025-06-21T00:00:00Z","timestamp":1750464000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"National High Level Hospital Clinical Research Funding"},{"name":"Interdepartmental Research Project of Peking University First Hospital","award":["2024IR12"],"award-info":[{"award-number":["2024IR12"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Biallelic variants in sorbitol dehydrogenase (SORD) have been reported to be a major cause of autosomal recessive distal hereditary motor neuropathy (dHMN). In this study, the clinical and pathological features of 10 patients with SORD gene-related dHMN are reported. Homozygous c.757delG variant was detected in 6 patients while c.757delG, c.786\u2009+\u20091G&amp;gt;A, c.218C&amp;gt;T, and a novel c.104T&amp;gt;A compound heterozygous variants were observed in the others. Serum sorbitol, xylitol, and D-arabinitol were measured by gas chromatography-mass spectrometry; increased sorbitol and xylitol, and decreased D-arabinitol were identified. Sural nerve biopsies showed mild loss of large, myelinated fibers, and a few thin myelinated fibers. Skeletal muscle biopsies exhibited a neurogenic pattern with vacuoles, tubular aggregates, and abnormal mitochondria. Proteomic analyses of muscle tissue were performed to explore potential mechanisms. Complex I deficiency was dominant in the proteomic analysis and the malic acid\/oxaloacetic acid ratio was significantly higher in the patients than in controls. In summary, SORD gene-related dHMN is a systemic disorder of carbohydrate metabolism with subclinical myopathologic changes, including tubular aggregates and vacuoles. Mitochondrial complex I deficiency, may be a key mechanism in SORD gene-related dHMN.<\/jats:p>","DOI":"10.1093\/jnen\/nlaf070","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T07:30:55Z","timestamp":1748331055000},"page":"902-910","source":"Crossref","is-referenced-by-count":2,"title":["Neuromuscular pathology and mitochondrial dysfunction in sorbitol dehydrogenase gene-related distal hereditary motor neuropathies"],"prefix":"10.1093","volume":"84","author":[{"given":"Zhenyu","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xujun","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University , Shandong,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yize","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiying","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianwen","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Gang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]},{"name":"Beijing Key Laboratory for Neurovascular Disease Discovery, Peking University , Beijing,","place":["China"]},{"name":"Key Laboratory for Neuroscience, National Health Commission of the People\u2019s Republic of China, Peking University , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoxia","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]},{"name":"Beijing Key Laboratory for Neurovascular Disease Discovery, Peking University , Beijing,","place":["China"]},{"name":"Key Laboratory for Neuroscience, National Health Commission of the People\u2019s Republic of China, Peking University , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9822-1095","authenticated-orcid":false,"given":"Lingchao","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]},{"name":"Beijing Key Laboratory for Neurovascular Disease Discovery, Peking University , Beijing,","place":["China"]},{"name":"Key Laboratory for Neuroscience, National Health Commission of the People\u2019s Republic of China, Peking University , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking University First Hospital , Beijing,","place":["China"]},{"name":"Beijing Key Laboratory for Neurovascular Disease Discovery, Peking University , Beijing,","place":["China"]},{"name":"Key Laboratory for Neuroscience, National Health Commission of the People\u2019s Republic of China, Peking University , Beijing,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,6,21]]},"reference":[{"key":"2025092317020573800_nlaf070-B1","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1111\/ene.15793","article-title":"SORD-related peripheral neuropathy in a French and Swiss cohort: clinical features, genetic analyses, and sorbitol dosages","volume":"30","author":"Pons","year":"2023","journal-title":"Eur J Neurol"},{"key":"2025092317020573800_nlaf070-B2","doi-asserted-by":"crossref","first-page":"603003","DOI":"10.3389\/fneur.2020.603003","article-title":"Genetic and clinical features in 24 Chinese distal hereditary motor neuropathy families","volume":"11","author":"Xie","year":"2020","journal-title":"Front Neurol"},{"key":"2025092317020573800_nlaf070-B3","doi-asserted-by":"crossref","first-page":"733926","DOI":"10.3389\/fneur.2021.733926","article-title":"Clinical and genetic features of biallelic mutations in SORD in a series of Chinese patients with Charcot-Marie-Tooth and distal hereditary motor neuropathy","volume":"12","author":"Liu","year":"2021","journal-title":"Front Neurol"},{"key":"2025092317020573800_nlaf070-B4","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1111\/ene.14700","article-title":"Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation","volume":"28","author":"Frasquet","year":"2021","journal-title":"Eur J Neurol"},{"key":"2025092317020573800_nlaf070-B5","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/acn3.51268","article-title":"Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease","volume":"8","author":"Yuan","year":"2021","journal-title":"Ann Clin Transl Neurol"},{"key":"2025092317020573800_nlaf070-B6","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/s12920-022-01238-4","article-title":"Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy","volume":"15","author":"Alluqmani","year":"2022","journal-title":"BMC Med Genomics"},{"key":"2025092317020573800_nlaf070-B7","doi-asserted-by":"crossref","first-page":"107118","DOI":"10.1016\/j.clineuro.2021.107118","article-title":"Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese 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