{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:58:52Z","timestamp":1791197932730,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1U54NS148312"],"award-info":[{"award-number":["1U54NS148312"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS123552"],"award-info":[{"award-number":["K08NS123552"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>PPP2R5D<\/jats:italic>\n                    \u2010related neurodevelopmental disorder (Houge\u2013Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease\u2010modifying therapies currently in clinical trials. We describe a 33\u2010year\u2010old woman with this condition who developed progressive mixed\u2010tremor parkinsonism in early adulthood. Dopamine transporter imaging confirmed presynaptic nigrostriatal dysfunction. Whole\u2010genome sequencing identified the recurrent de novo pathogenic missense variant PPP2R5D p.Glu198Lys. The clinical triad of macrocephaly, intellectual disability, and early\u2010onset parkinsonism is specific for this condition and should prompt targeted genetic evaluation even in adults with a longstanding diagnosis of a neurodevelopmental disorder.\n                  <\/jats:p>","DOI":"10.1002\/acn3.70492","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T17:24:56Z","timestamp":1784309096000},"page":"2161-2165","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Progressive Parkinsonism in\n                    <scp>\n                      <i>PPP2R5D<\/i>\n                    <\/scp>\n                    \u2010Related Neurodevelopmental Disorder"],"prefix":"10.1002","volume":"13","author":[{"given":"Katerina","family":"Bernardi","sequence":"first","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0031-2756","authenticated-orcid":false,"given":"Enrique","family":"Gonzalez Saez\u2010Diez","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Medical Faculty, Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Rong","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beril","family":"Ay","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1718-3961","authenticated-orcid":false,"given":"Shabbir","family":"Merchant","sequence":"additional","affiliation":[{"name":"Department of Neurology Harvard Medical School, Beth Israel Deaconess Medical Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6892-5189","authenticated-orcid":false,"given":"Kathryn","family":"Yang","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-4714","authenticated-orcid":false,"given":"Darius","family":"Ebrahimi\u2010Fakhari","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI79860"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2025.100450"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2022-108713"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25863"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104123"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac391"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22996"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-024-00449-1"},{"key":"e_1_2_11_10_1","volume-title":"GeneReviews\u00ae","author":"Mirzaa G.","year":"1993"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNF.0000000000000270"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.70180"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.30131"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70492","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.70492","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:00:18Z","timestamp":1791194418000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,17]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/acn3.70492"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70492","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,17]]},"assertion":[{"value":"2026-04-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}