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However, the full genotype-phenotype spectrum and progression of the disease remain to be defined. Notably, a multicentre phase 2\/3 study to test the efficacy of govorestat (NCT05397665), a new aldose reductase inhibitor, is currently ongoing. Diagnosing CMT-SORD will become imperative when disease-modifying therapies become available.<\/jats:p>\n               <jats:p>In this cross-sectional multicentre study, we identified 144 patients from 126 families, including 99 males (69%) and 45 females (31%). Patients represented multiple ancestries, including European, Hispanic, Chinese, Near Eastern and Northern African. We confirmed c.757delG (p.Ala253GlnfsTer27) as the most common pathogenic allele, followed by c.458C&amp;gt;A (p.Ala153Asp), while other variants were identified, mostly in single cases. The average sorbitol level in CMT-SORD patients was significantly higher compared to controls and heterozygous carriers, independently from serum storage duration, sex or variant type. Two-thirds of cases were diagnosed with CMT2 while one-third had distal hereditary motor neuropathy. Disease onset was usually in the second decade of life. Although foot dorsiflexion was the most affected muscle group, dorsal and plantar flexion had a similar degree of weakness in most cases (difference of Medical Research Council score \u2264 1). One-fourth of patients used ankle foot orthoses, usually in their 30s, but most patients maintained independent ambulation later in life. Nerve conduction studies were suggestive of a motor predominant axonal neuropathy, with reduced conduction velocities in the intermediate range in a quarter of the cases. Sensory conductions in the upper limbs appeared more frequently affected than in the lower limbs. Foot dorsiflexion and plantar flexion decreased significantly with age. Male sex was significantly associated with the severity of distal lower limb weakness (plantar flexion) and a larger change over time (dorsiflexion).<\/jats:p>\n               <jats:p>In conclusion, CMT-SORD is a frequent recessive form of axonal, motor predominant CMT, with prominent foot dorsiflexion and plantar flexion involvement. Fasting serum sorbitol is a reliable biomarker of the condition that can be utilized for pathogenicity assessment of identified rare SORD variants.<\/jats:p>","DOI":"10.1093\/brain\/awaf021","type":"journal-article","created":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T07:14:53Z","timestamp":1737962093000},"page":"3737-3747","source":"Crossref","is-referenced-by-count":14,"title":["Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2208-5311","authenticated-orcid":false,"given":"Andrea","family":"Cortese","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , Pavia 27100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5320-9807","authenticated-orcid":false,"given":"Maike F","family":"Dohrn","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami , Miami, FL 33136 ,","place":["USA"]},{"name":"Department of Neurology, Medical Faculty, RWTH Aachen University , Aachen 52074 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Curro","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , Pavia 27100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Negri","sequence":"additional","affiliation":[{"name":"Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria\u2014MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS , Pavia 27100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Lassuthova","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital , Praha 150 06 ,","place":["Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3850-076X","authenticated-orcid":false,"given":"Chiara","family":"Pisciotta","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan, 20133 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9672-4577","authenticated-orcid":false,"given":"Stefano","family":"Tozza","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II , Naples 80131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Al-Ajmi","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Al-Jahra Hospital , Al-Jahra 00020 ,","place":["Kuwait"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changyong","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Computational Biology, University of Rochester , Rochester, NY 14642 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1485-3771","authenticated-orcid":false,"given":"Pedro J","family":"Tomaselli","sequence":"additional","affiliation":[{"name":"Clinical Hospital of Ribeir\u00e3o Preto, Department of Neurosciences and Behaviour Sciences, University of S\u00e3o Paulo , Ribeir\u00e3o Preto 14015-010 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Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Vegezzi","sequence":"additional","affiliation":[{"name":"IRCCS Mondino Foundation , Pavia 27100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Facchini","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , Pavia 27100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3782-9045","authenticated-orcid":false,"given":"James N","family":"Sleigh","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"UK Dementia Research Institute, University College London , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5669-7415","authenticated-orcid":false,"given":"Adriana","family":"Rebelo","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6593-7644","authenticated-orcid":false,"given":"Danique","family":"Beijer","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami , Miami, FL 33136 ,","place":["USA"]},{"name":"Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen , T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacquelyn","family":"Raposo","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Saporta","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbora","family":"Lauerova","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital , Praha 150 06 ,","place":["Czechia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena F","family":"Pernice","sequence":"additional","affiliation":[{"name":"Charit\u00e9 University Medicine Berlin, Corporate Member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t Zu Berlin, Department of Neurology and Experimental Neurology , Berlin 10117 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Achenbach","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty, RWTH Aachen University , Aachen 52074 ,","place":["Germany"]},{"name":"Institute of Neuropathology, Medical Faculty, RWTH Aachen University , Aachen 52074 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Sch\u00f6ne","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty, RWTH Aachen University , Aachen 52074 ,","place":["Germany"]},{"name":"Department of Neurology, Maria Hilf Hospital M\u00f6nchengladbach , M\u00f6nchengladbach 41063 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayir","family":"Alon","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beilinson Hospital, Rabin Medical Center , Petah Tikva 4941492 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich , M\u00fcnchen 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabell","family":"Cordts","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital rechts der Isar, School of Medicine and Health, Technical University Munich , M\u00fcnchen 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin D","family":"Obermaier","sequence":"additional","affiliation":[{"name":"Center for Genomics and Transcriptomics T\u00fcbingen and Zentrum f\u00fcr Humangenetik T\u00fcbingen , T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Winter","sequence":"additional","affiliation":[{"name":"Department of Neurology and Hertie Institute for Clinical Brain Research (HIH), University of T\u00fcbingen , T\u00fcbingen 72076 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter D","family":"Creigh","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester , Rochester, NY 14642 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet E","family":"Sowden","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester , Rochester, NY 14642 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5815-0907","authenticated-orcid":false,"given":"Tyler","family":"Rehbein","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester , Rochester, NY 14642 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9610-7544","authenticated-orcid":false,"given":"Stefania","family":"Magri","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan 20133 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan, 20133 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Saveri","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan, 20133 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Macdonald Foundation, John P. Hussman Institute for Human Genomics, University of Miami , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Nadaj-Pakleza","sequence":"additional","affiliation":[{"name":"Service de neurologie, Centre de r\u00e9f\u00e9rence des maladies neuromusculaires, H\u00f4pitaux Universitaires de Strasbourg , Strasbourg 67091 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Ross","sequence":"additional","affiliation":[{"name":"Clinical Genetics, NHS Grampian , Aberdeen AB15 6RE ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James K L","family":"Holt","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Walton Centre , Liverpool L9 7LJ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn M","family":"Brennan","sequence":"additional","affiliation":[{"name":"Institute of Neurological Sciences, Queen Elizabeth University Hospital , Glasgow G51 4TF ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Sukenik-Halevy","sequence":"additional","affiliation":[{"name":"Raphael Recanati Genetic Institute, Rabin Medical Center\u2014Beilinson Hospital , Petah Tikva 4941492 ,","place":["Israel"]},{"name":"School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University , Tel Aviv 6997801 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varoona","family":"Bizaoui","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Hospitalier Universitaire Caen Normandie , Caen 14000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yesim","family":"Parman","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine , Istanbul 1827 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"Battaloglu","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, Center for Life Sciences and Technologies, Bogazici University , Istanbul 34342 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8129-4172","authenticated-orcid":false,"given":"Arman","family":"Cakar","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University , Istanbul 34093 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadil","family":"Alrohaif","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Centre, Sabah Hospital , Kuwait City ,","place":["Kuwait"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Hammans","sequence":"additional","affiliation":[{"name":"Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust. 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School of Medical Sciences, Faculty of Medicine and Health, University of Sydney , Sydney, NSW 2050 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Koc University School of Medicine (KUSOM) , Istanbul 34010 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Defne A","family":"Amado","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hahn","sequence":"additional","affiliation":[{"name":"Charit\u00e9 University Medicine Berlin, Corporate Member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t Zu Berlin, Department of Neurology and Experimental Neurology , Berlin 10117 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Valentino","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia , Catanzaro 88100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR) , Mangone (CS) 87050 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5238-1832","authenticated-orcid":false,"given":"Carlo","family":"Gaetano","sequence":"additional","affiliation":[{"name":"Laboratorio di Epigenetica, Dipartimento Medicina Riabilitativa NeuroMotoria\u2014MeRiNM, Istituti Clinici Scientifici Maugeri IRCCS , Pavia 27100 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