{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:32:53Z","timestamp":1747186373253,"version":"3.40.5"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T00:00:00Z","timestamp":1686096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["22ek0109491h0003"],"award-info":[{"award-number":["22ek0109491h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>Pathogenic variants of <jats:italic>HSPB1<\/jats:italic>, the gene encoding the small heat shock protein 27, have been reported to cause autosomal dominant distal hereditary motor neuropathy (dHMN) type II and autosomal dominant Charcot\u2013Marie\u2010Tooth (CMT) disease with minimal sensory involvement (CMT2F). This study aimed to describe the clinical features of patients in a family with late\u2010onset dHMN carrying the Pro39Leu variant of <jats:italic>HSPB1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequence analysis identified a heterozygous pathogenic variant (Pro39Leu) of <jats:italic>HSPB1<\/jats:italic> in the proband. The presence of the <jats:italic>HSPB1<\/jats:italic> Pro39Leu variant in two affected individuals was confirmed using direct nucleotide sequence analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both patients exhibited distal muscle weakness with lower extremity predominance and no obvious sensory deficits, leading to a clinical diagnosis of late\u2010onset dHMN. Nerve conduction studies (NCSs) revealed a subclinical complication of sensory disturbance in one of the patients. The clinical and electrophysiological findings of patients with the <jats:italic>HSPB1<\/jats:italic> Pro39Leu variant in this study and previous reports are summarized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This study suggests that the clinical spectrum of patients carrying <jats:italic>HSPB1<\/jats:italic> Pro39Leu variants, especially the disease onset, might be broader than expected, and <jats:italic>HSPB1<\/jats:italic> variants should be considered in patients diagnosed with late\u2010onset dHMN. Furthermore, patients with dHMN may have concomitant sensory deficits that should be evaluated using NCSs.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12567","type":"journal-article","created":{"date-parts":[[2023,5,30]],"date-time":"2023-05-30T10:30:09Z","timestamp":1685442609000},"page":"518-521","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical features of a family with late\u2010onset distal hereditary motor neuropathy harboring p.<scp>Pro39Leu<\/scp> variant of <i>HSPB1<\/i>"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1190-0499","authenticated-orcid":false,"given":"Hiroya","family":"Naruse","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Precision Medicine Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"So","family":"Okubo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Sudo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Mitsui","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Precision Medicine Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Mikata","sequence":"additional","affiliation":[{"name":"Department of Neurology National Hospital Organization Shimoshizu National Hospital  Yotsukaido Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"},{"name":"Department of Neurology Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Morishita","sequence":"additional","affiliation":[{"name":"Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Institute of Medical Genomics International University of Health and Welfare  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsushi","family":"Toda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1354"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000319696.14225.67"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-39975-1_2"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-318568"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2011.00361.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.10.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23189"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12252"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12567","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T13:21:44Z","timestamp":1698844904000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,7]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1111\/jns.12567"],"URL":"https:\/\/doi.org\/10.1111\/jns.12567","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"type":"print","value":"1085-9489"},{"type":"electronic","value":"1529-8027"}],"subject":[],"published":{"date-parts":[[2023,6,7]]},"assertion":[{"value":"2023-04-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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