{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:59:13Z","timestamp":1790650753937,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:00:00Z","timestamp":1760054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them,\n                    <jats:italic>RAB39B<\/jats:italic>\n                    polymorphisms are known as rare causes of early\u2010onset PD associated with intellectual disability (Waisman's syndrome). Here we describe a 45\u2010year\u2010old white male affected by developmental delay, childhood onset intellectual disability, epilepsy, and PD who was treated with subthalamic deep brain stimulation and subcutaneous L\u2010DOPA infusion. Next Generation Sequencing analysis revealed a currently unknown pathogenic hemizygous sequence variant c.463C&gt;T (NM_171998.4) in the\n                    <jats:italic>RAB39B<\/jats:italic>\n                    gene, confirmed also in the proband's mother, affected by late\u2010onset PD. This report expands the number of described\n                    <jats:italic>RAB39B<\/jats:italic>\n                    mutations in individuals with early\u2010 and late\u2010onset, X\u2010linked PD.\n                  <\/jats:p>","DOI":"10.1002\/acn3.70225","type":"journal-article","created":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T03:49:41Z","timestamp":1760154581000},"page":"204-208","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>RAB39B<\/scp>\n                    Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies"],"prefix":"10.1002","volume":"13","author":[{"given":"Caterina","family":"Del Regno","sequence":"first","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4554-8815","authenticated-orcid":false,"given":"Giovanni","family":"Ermanis","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Lettieri","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0227-0659","authenticated-orcid":false,"given":"Andrea","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Pellitteri","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Belgrado","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Betto","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Luigi","family":"Gigli","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"De Monte","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco Domenico","family":"Scanni","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Mucchiut","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Damante","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Udine  Udine Italy"},{"name":"Institute of Medical Genetics Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariarosaria","family":"Valente","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Janes","sequence":"additional","affiliation":[{"name":"Clinical Neurology Unit, Department of Head\u2010Neck and Neurosciences Azienda Sanitaria Universitaria Friuli Centrale (ASU FC)  Udine Italy"},{"name":"Department of Medicine University of Udine  Udine Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,10]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210409"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28565"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3233\/JPD-212815"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0175-3"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2025.107824"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28605"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.598622"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-021-01155-5"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.17704"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T14:17:52Z","timestamp":1768054672000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,10]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/acn3.70225"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70225","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,10]]},"assertion":[{"value":"2025-05-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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