{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T16:23:33Z","timestamp":1775147013768,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T00:00:00Z","timestamp":1629417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006474","name":"Columbia University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006474","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>\n<jats:italic>PLXNA1<\/jats:italic> encodes for Plexin\u2010A, a transmembrane protein expressed in the developing nervous system. Mutations in this gene have been associated with developmental delay but have not been previously associated with the development of parkinsonism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To describe the case of a 38\u2010year\u2010old patient with developmental delay who developed parkinsonism later in life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Post\u2010mortem exome sequencing was performed with confirmation by Sanger sequencing. Brain autopsy was also performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Post\u2010mortem exome sequencing on the proband identified a heterozygous predicted nonsense <jats:italic>PLXNA1<\/jats:italic> variant (c.G3361T:p.Glu1121Ter). Pathology demonstrated arhinencephaly with brainstem heterotopia, diffuse Lewy body disease, and frontotemporal lobar dementia\u2010tau.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This case of a patient with developmental delay and parkinsonism with <jats:italic>PLXNA1<\/jats:italic> mutation highlights a need for assessing long\u2010term outcomes of individuals with neurodevelopmental disorders, as well as the need for genetic testing in adults. It also suggests that the link between <jats:italic>PLXNA1<\/jats:italic> and \u03b1\u2010synuclein should be explored in the future. \u00a9 2021 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28756","type":"journal-article","created":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T08:49:42Z","timestamp":1629449382000},"page":"2681-2687","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in <scp><i>PLXNA1<\/i><\/scp>"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6002-3808","authenticated-orcid":false,"given":"Sarah A.","family":"O'Shea","sequence":"first","affiliation":[{"name":"Department of Neurology Boston University School of Medicine  Boston Massachusetts USA"},{"name":"Department of Neurology Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A.","family":"Hickman","sequence":"additional","affiliation":[{"name":"Department of Pathology Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etty","family":"Cortes","sequence":"additional","affiliation":[{"name":"Department of Pathology Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"},{"name":"Department of Pathology Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Paul","family":"Vonsattel","sequence":"additional","affiliation":[{"name":"Department of Pathology Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley","family":"Fahn","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volkan","family":"Okur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4933-2618","authenticated-orcid":false,"given":"Roy N.","family":"Alcalay","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,20]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(00)80063-x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38236"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12929"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01196-9"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.015"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25863"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21165724"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000513935"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0685-z"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_13_1","volume-title":"Roles of Semaphorins in Neurodegenerative Diseases","author":"Quintremil S","year":"2018"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/mcne.1999.0738"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2014.02.005"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-160076"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.08.020"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.5414\/NP300509"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.12.044"},{"issue":"10","key":"e_1_2_9_20_1","first-page":"1552","article-title":"The terminal nerve plays a prominent role in GnRH\u20101 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs","volume":"6","author":"Taroc EZM","year":"2017","journal-title":"Biol Open"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nic.2011.05.001"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6702958"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.68"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-8"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30240"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2014.12.015"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1167304"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-018-0048-5"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0079145"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2014.08.010"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41398-020-00904-4"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28756","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.28756","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.28756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:12:14Z","timestamp":1760958734000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.28756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,20]]},"references-count":30,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1002\/mds.28756"],"URL":"https:\/\/doi.org\/10.1002\/mds.28756","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,20]]},"assertion":[{"value":"2021-05-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}