{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T18:54:27Z","timestamp":1780512867168,"version":"3.54.1"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T00:00:00Z","timestamp":1593043200000},"content-version":"vor","delay-in-days":176,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Region Norrbotten"},{"name":"ALF Grants Region \u00d6sterg\u00f6tland","award":["LIO-900631"],"award-info":[{"award-number":["LIO-900631"]}]},{"name":"The Swedish Society of Medicine","award":["SLS-935894"],"award-info":[{"award-number":["SLS-935894"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In Sweden, a large family with a point mutation in the nerve growth factor-beta gene has previously been identified. The carriers of this mutation have reduced small-fibre density and selective deficits in deep pain and temperature modalities. The clinical findings in this population are described as hereditary sensory and autonomic neuropathy type V. The purpose of the current study was to investigate the prevalence of carpal tunnel syndrome in hereditary sensory and autonomic neuropathy type V based on clinical examinations and electrophysiological measurements. Furthermore, the cross-sectional area of the median nerve at the carpal tunnel inlet was measured with ultrasonography. Out of 52 known individuals heterozygous for the nerve growth factor-beta mutation in Sweden, 23 participated in the current study (12 males, 11 females; mean age 55\u2009years; range 25\u201386\u2009years). All participants answered a health questionnaire and underwent clinical examination followed by median nerve conduction study in a case\u2013control design, and measurement of the nerve cross-sectional area with ultrasonography. The diagnosis of carpal tunnel syndrome was made based on consensus criteria using patient history and nerve conduction study. The prevalence of carpal tunnel syndrome in the hereditary sensory and autonomic neuropathy group was 35% or 52% depending on whether those individuals who had classic symptoms of carpal tunnel syndrome but negative nerve conduction studies were included or not. Those who had a high likelihood of carpal tunnel syndrome based on classic\/probable patient history with positive nerve conduction study had a significantly larger median nerve cross-sectional area than those who had an unlikely patient history with negative nerve conduction study. The prevalence of carpal tunnel syndrome was 10\u201325 times higher in individuals heterozygous for the nerve growth factor-beta mutation than the general Swedish population. Further studies are needed to better understand the underlying pathophysiological mechanisms.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaa085","type":"journal-article","created":{"date-parts":[[2020,6,25]],"date-time":"2020-06-25T16:33:51Z","timestamp":1593102831000},"source":"Crossref","is-referenced-by-count":5,"title":["High prevalence of carpal tunnel syndrome in individuals with rare nerve growth factor-beta mutation"],"prefix":"10.1093","volume":"2","author":[{"given":"Mikael","family":"Ridderstr\u00f6m","sequence":"first","affiliation":[{"name":"Department of Orthopaedics, G\u00e4llivare Hospital, G\u00e4llivare, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mats","family":"Svantesson","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, Link\u00f6ping University, Link\u00f6ping, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oumie","family":"Thorell","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, Link\u00f6ping University, Link\u00f6ping, Sweden"},{"name":"Department of Biomedical and Clinical Sciences, Center for Social and Affective Neuroscience, Link\u00f6ping University, Link\u00f6ping, Sweden"},{"name":"Department of Integrative Physiology, School of Medicine, Western Sydney University, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theofilos","family":"Magounakis","sequence":"additional","affiliation":[{"name":"Department of Radiology, Pite\u00e5 \u00c4lvdals Hospital, Pite\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Minde","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, G\u00e4llivare Hospital, G\u00e4llivare, Sweden"},{"name":"Division of Orthopaedics, Department of Surgery and Perioperative Science, Ume\u00e5 University Hospital, Ume\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e5kan","family":"Olausson","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, Link\u00f6ping University, Link\u00f6ping, Sweden"},{"name":"Department of Biomedical and Clinical Sciences, Center for Social and Affective Neuroscience, Link\u00f6ping University, Link\u00f6ping, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8773-8232","authenticated-orcid":false,"given":"Saad S","family":"Nagi","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, Link\u00f6ping University, Link\u00f6ping, Sweden"},{"name":"Department of Biomedical and Clinical Sciences, Center for Social and Affective Neuroscience, Link\u00f6ping University, Link\u00f6ping, Sweden"},{"name":"Department of Integrative Physiology, School of Medicine, 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