{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T18:58:11Z","timestamp":1790535491459,"version":"4.1.0"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Neurol"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease. Identification of systemic involvement is necessary to distinguish the primary and secondary hereditary neuropathies to prevent the misdiagnosis of potentially treatable entities. Recent genetic and technological advances have dramatically improved our understanding of the underlying pathophysiology of these inherited neuropathies and hence provide the correct milieu for the future development of disease-modifying therapies. This review provides clinical, neurophysiological, genetic, pathophysiological, and treatment insights into the primary inherited neuropathies, and those associated with multisystem diseases, including porphyria and mitochondrial disorders.<\/jats:p>","DOI":"10.1055\/s-0039-1693006","type":"journal-article","created":{"date-parts":[[2019,10,22]],"date-time":"2019-10-22T23:04:11Z","timestamp":1571785451000},"page":"620-639","source":"Crossref","is-referenced-by-count":13,"title":["Inherited Neuropathies"],"prefix":"10.1055","volume":"39","author":[{"given":"Antonia S.","family":"Carroll","sequence":"additional","affiliation":[{"name":"Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia"},{"name":"Departments of Neurology, Westmead Hospital, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Burns","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garth","family":"Nicholson","sequence":"additional","affiliation":[{"name":"Northcott Neuroscience Laboratory, ANZAC Research Institute, Molecular Medicine Laboratory, Concord Hospital, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew C.","family":"Kiernan","sequence":"additional","affiliation":[{"name":"Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia"},{"name":"Department of Neurology, Royal Prince Alfred Hospital, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Vucic","sequence":"additional","affiliation":[{"name":"Departments of Neurology, Westmead Hospital, University of Sydney, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2019,10,22]]},"container-title":["Seminars in Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1693006.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,22]],"date-time":"2019-10-22T23:04:19Z","timestamp":1571785459000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1693006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10]]},"references-count":0,"journal-issue":{"issue":"05","published-online":{"date-parts":[[2019,10,22]]},"published-print":{"date-parts":[[2019,10]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1693006","relation":{},"ISSN":["0271-8235","1098-9021"],"issn-type":[{"value":"0271-8235","type":"print"},{"value":"1098-9021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10]]}}}