{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T17:08:12Z","timestamp":1788368892549,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T00:00:00Z","timestamp":1519171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The nerve sonographic features of Dejerine\u2010Sottas disease (DSD) have not previously been described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This exploratory cross\u2010sectional, matched, case\u2013control study investigated differences in nerve cross\u2010sectional area (CSA) in children with DSD compared to healthy controls and children with Charcot\u2013Marie\u2013Tooth disease type 1A (CMT1A). CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound. The mean difference in CSA between children with DSD, controls, and CMT1A was determined individually and within each group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five children with DSD and five age\u2010 and sex\u2010matched controls were enrolled. Data from five age\u2010matched children with CMT1A was also included. Group comparison showed no mean difference in nerve CSA between children with DSD and controls. Individual analysis of each DSD patient with their matched control indicated an increase in nerve CSA in three of the five children. The largest increase was observed in a child with a heterozygous <jats:italic>PMP22<\/jats:italic> point mutation (nerve CSA fivefold larger than a control and twofold larger than a child with CMT1A). Nerve CSA was moderately increased in two children\u2014one with a heterozygous mutation in <jats:italic>MPZ<\/jats:italic> and the other of unknown genetic etiology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Changes in nerve CSA on ultrasonography in children with DSD differ according to the underlying genetic etiology, confirming the variation in underlying pathobiologic processes and downstream morphological abnormalities of DSD subtypes. Nerve ultrasound may assist in the clinical phenotyping of DSD and act as an adjunct to known distinctive clinical and neurophysiologic findings of DSD subtypes. Larger studies in DSD cohorts are required to confirm these findings.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.919","type":"journal-article","created":{"date-parts":[[2018,2,21]],"date-time":"2018-02-21T20:10:23Z","timestamp":1519243823000},"source":"Crossref","is-referenced-by-count":9,"title":["Dejerine\u2013Sottas disease in childhood\u2014Genetic and sonographic heterogeneity"],"prefix":"10.1002","volume":"8","author":[{"given":"Sanne M. R.","family":"Hobbelink","sequence":"first","affiliation":[{"name":"Neurology Department Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cain R.","family":"Brockley","sequence":"additional","affiliation":[{"name":"Medical Imaging Department The Royal Children's Hospital Melbourne  Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel A.","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Neurology Department The Royal Children's Hospital Melbourne  Parkville Vic. Australia"},{"name":"Neurosciences Research Murdoch Childrens Research Institute  Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Carroll","sequence":"additional","affiliation":[{"name":"Neurology Department The Royal Children's Hospital Melbourne  Parkville Vic. Australia"},{"name":"Neurosciences Research Murdoch Childrens Research Institute  Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"de Valle","sequence":"additional","affiliation":[{"name":"Neurology Department The Royal Children's Hospital Melbourne  Parkville Vic. Australia"},{"name":"Neurosciences Research Murdoch Childrens Research Institute  Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Padma","family":"Rao","sequence":"additional","affiliation":[{"name":"Medical Imaging Department The Royal Children's Hospital Melbourne  Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark R.","family":"Davis","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit Department of Diagnostic Genomics PathWest Laboratory Medicine QEII Medical Centre  Nedlands WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G.","family":"Laing","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit Department of Diagnostic Genomics PathWest Laboratory Medicine QEII Medical Centre  Nedlands WA Australia"},{"name":"QEII Medical Centre Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research  Nedlands WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol C.","family":"Voermans","sequence":"additional","affiliation":[{"name":"Neurology Department Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique M.","family":"Ryan","sequence":"additional","affiliation":[{"name":"Neurology Department The Royal Children's Hospital Melbourne  Parkville Vic. Australia"},{"name":"Neurosciences Research Murdoch Childrens Research Institute  Parkville Vic. Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Vic. Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6704-8402","authenticated-orcid":false,"given":"Eppie M.","family":"Yiu","sequence":"additional","affiliation":[{"name":"Neurology Department The Royal Children's Hospital Melbourne  Parkville Vic. Australia"},{"name":"Neurosciences Research Murdoch Childrens Research Institute  Parkville Vic. Australia"},{"name":"Department of Paediatrics The University of Melbourne  Parkville Vic. 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