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The study was aimed at delineating the clinical and neuropathological features associated with a previously reported pathogenic variant in <jats:italic>RAB39B<\/jats:italic> (c.503C&gt;A p.T168K) and testing for dysregulation of RAB39B in idiopathic PD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical details of a male individual hemizygous for the T168K variant were collected by systematic review of medical records. Neuropathological studies of fixed brain tissue were performed and steady\u2010state RAB39B levels were determined by western blot analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Neuropathological examination showed extensive dopaminergic neuron loss, widespread Lewy pathology, and iron accumulation in the substantia nigra. Additional pathology was observed in the hippocampus and thalamus. Western blot analysis demonstrated that the T168K variant results in loss of RAB39B. In individuals with idiopathic PD (n = 10, 6 male\/4 female), steady\u2010state RAB39B was significantly reduced in the prefrontal cortex and substantia nigra.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>T168K RAB39B is unstable in vivo and associated with dopaminergic neuron loss and Lewy pathology. Dysregulation of RAB39B in the prefrontal cortex and substantia nigra of individuals with idiopathic PD potentially implicates the protein more broadly in the pathological mechanisms underlying PD and related Lewy body disorders. \u00a9 2020 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.27951","type":"journal-article","created":{"date-parts":[[2020,1,17]],"date-time":"2020-01-17T07:20:14Z","timestamp":1579245614000},"page":"687-693","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Clinical and Neuropathological Features Associated With Loss of RAB39B"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4542-7062","authenticated-orcid":false,"given":"Yujing","family":"Gao","sequence":"first","affiliation":[{"name":"Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Pediatrics The University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica","family":"Mart\u00ednez\u2010Cerde\u00f1o","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine UC Davis School of Medicine; Institute for Pediatric Regenerative Medicine and Shriners Hospitals for Children of Northern California  Davis, California USA"},{"name":"MIND Institute, UC Davis Medical Center  Davis, California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirk J.","family":"Hogan","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology University of Wisconsin School of Medicine and Public Health  Madison Wisconsin USA"},{"name":"Wisconsin Alzheimer's Institute, University of Wisconsin School of Medicine and Public Health  Madison Wisconsin USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catriona A.","family":"McLean","sequence":"additional","affiliation":[{"name":"Anatomical Pathology Alfred Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2531-8413","authenticated-orcid":false,"given":"Paul J.","family":"Lockhart","sequence":"additional","affiliation":[{"name":"Bruce Lefroy Centre for Genetic Health Research Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Pediatrics The University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.13691"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.13"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.13593"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.015"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000009"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-015-0045-4"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2015.06.019"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2016.03.021"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep34502"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2016.03.019"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2015.12.014"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26828"},{"issue":"4","key":"e_1_2_7_14_1","first-page":"1173","article-title":"Non\u2010Abeta component of Alzheimer's disease amyloid (NAC) revisited","volume":"155","author":"Culvenor JG","year":"1999","journal-title":"NAC and alpha\u2010synuclein are not associated with Abeta amyloid. 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