{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:37:32Z","timestamp":1790613452633,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81030019"],"award-info":[{"award-number":["81030019"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873784"],"award-info":[{"award-number":["81873784"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically heterogeneous group of disorders. The purpose of this study was to identify the genetic distribution of dHMNs in a large cohort of Chinese patients and provide insight into the underlying common pathophysiology of dHMNs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Multi\u2010gene panel testing or whole\u2010exome sequencing was performed in 70 index patients with clinically diagnosed dHMN between January 2007 and December 2018. The clinical features, Charcot\u2013Marie\u2013Tooth (CMT) neuropathy scores and electrophysiological data at diagnosis were recorded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010four causative mutations were identified in 70 index patients with dHMN (34.3%). Mutation in the <jats:italic>HSPB1<\/jats:italic> gene was the most common cause of dHMN. Some CMT genes (<jats:italic>MPZ<\/jats:italic>, <jats:italic>SH3TC2<\/jats:italic>, <jats:italic>GDAP1<\/jats:italic>) were found to be related to dHMN with minor sensory involvement. Patients with a dHMN\u2010plus phenotype (distal motor neuropathy and additional neurological deficits) carried variants in genes related to hereditary spastic paraplegia, amyotrophic lateral sclerosis and spinal muscular atrophy (<jats:italic>FUS<\/jats:italic>, <jats:italic>KIF5A<\/jats:italic>, <jats:italic>KIF1B<\/jats:italic>, <jats:italic>ZFYVE26<\/jats:italic>, <jats:italic>DNAJB2<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Comprehensive genetic testing of dHMN patients allows for identification of the pathogenic mutation in one\u2010third of cases. Pure motor neuropathies and motor neuropathies with minor sensory involvement share many genes with CMT disease. Causes for dHMN\u2010plus phenotypes overlap with motor neuron disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14260","type":"journal-article","created":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T20:24:11Z","timestamp":1587068651000},"page":"1319-1326","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Molecular analysis and clinical diversity of distal hereditary motor neuropathy"],"prefix":"10.1111","volume":"27","author":[{"given":"X.","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University Third Hospital Beijing China"},{"name":"Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Neurology China\u2010Japan Friendship Hospital Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Third Hospital Beijing China"},{"name":"Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Third Hospital Beijing China"},{"name":"Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3129-9821","authenticated-orcid":false,"given":"D.","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University Third Hospital Beijing China"},{"name":"Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases Beijing China"},{"name":"Key Laboratory for Neuroscience National Health Commission\/Ministry of Education Peking University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003772"},{"key":"e_1_2_8_3_1","first-page":"1051","volume-title":"Peripheral Neuropathy","author":"Harding AE","year":"1993"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.179"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2019-320717"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2018.01529"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.92"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.11.008"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10755"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh590"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1313"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7727-2"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1354"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.10.001"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv241"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12195"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1657"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.512"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.07.003"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws049"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13015"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00363-4"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn029"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001220"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx058"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182574f8f"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0000000000000096"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.006"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1086\/379525"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx370"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/344210"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx375"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2016.5664"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx216"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn216"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq428"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14260","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.14260","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.14260","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T01:58:23Z","timestamp":1693360703000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.14260"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,12]]},"references-count":38,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1111\/ene.14260"],"URL":"https:\/\/doi.org\/10.1111\/ene.14260","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,12]]},"assertion":[{"value":"2019-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}