{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T21:16:00Z","timestamp":1722892560308},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,12,21]],"date-time":"2018-12-21T00:00:00Z","timestamp":1545350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Mutations in the <jats:italic>BICD2<\/jats:italic> gene are causative for an autosomal dominant form of spinal muscular atrophy (SMALED2). Further, <jats:italic>BICD2<\/jats:italic> mutations have been implicated in hereditary spastic paraplegia (HSP), but only very few such patients have been described. In this report we aimed to investigate the frequency of <jats:italic>BICD2<\/jats:italic> mutations in patients with HSP and hereditary motor and sensory neuropathy (HMSN) who were negative for the most common known genetic causes. <jats:italic>Methods<\/jats:italic>: The cohorts comprised 171 HSP and 189 HMSN patients. Mutational analysis was performed with high\u2010resolution melting analysis followed by Sanger sequencing. Results: In both cohorts, we found no known or likely pathogenic mutations in the <jats:italic>BICD2<\/jats:italic> gene. <jats:italic>Discussion<\/jats:italic>:\n<jats:italic>BICD2<\/jats:italic> mutations appear rather unlikely to cause a phenotype of HMSN and are a very rare cause of the HSP phenotype. <jats:italic>Muscle Nerve<\/jats:italic> 59:484\u2013486, 2019<\/jats:p>","DOI":"10.1002\/mus.26394","type":"journal-article","created":{"date-parts":[[2018,12,8]],"date-time":"2018-12-08T06:38:25Z","timestamp":1544251105000},"page":"484-486","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>BICD2<\/i> mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy"],"prefix":"10.1002","volume":"59","author":[{"given":"Regina","family":"Kropatsch","sequence":"first","affiliation":[{"name":"Department of Human Genetics Ruhr University, Universit\u00e4tsstrasse 150  44801 Bochum Germany"},{"name":"Center for Rare Diseases Ruhr  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena M.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Ruhr University, Universit\u00e4tsstrasse 150  44801 Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Buttkereit","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Ruhr University, Universit\u00e4tsstrasse 150  44801 Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg T.","family":"Epplen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Ruhr University, Universit\u00e4tsstrasse 150  44801 Bochum Germany"},{"name":"Center for Rare Diseases Ruhr  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Hoffjan","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Ruhr University, Universit\u00e4tsstrasse 150  44801 Bochum Germany"},{"name":"Center for Rare Diseases Ruhr  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2015.00401"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu356"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25114"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/21678421.2017.1304557"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003360"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12914"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.98"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.018"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.126"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymeth.2010.01.013"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.015"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/aja.aja_15_18"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26394","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T03:09:45Z","timestamp":1694401785000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.26394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,21]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,4]]}},"alternative-id":["10.1002\/mus.26394"],"URL":"https:\/\/doi.org\/10.1002\/mus.26394","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,21]]},"assertion":[{"value":"2018-05-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}