{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T03:24:51Z","timestamp":1779333891684,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,9,4]],"date-time":"2020-09-04T00:00:00Z","timestamp":1599177600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Biallelic mutations in <jats:italic>ATP13A2<\/jats:italic> were identified as the cause of Kufor\u2010Rakeb disease, a pallido\u2010pyramidal syndrome characterized by young\u2010onset dystonia\u2013parkinsonism with vertical supranuclear gaze palsy, spasticity, and cognitive decline. The phenotypic spectrum has broadened since, but predominantly psychiatric or behavioral manifestations have not been highlighted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>Here we report the clinical, radiological, and genetic findings in 2 unrelated patients with <jats:italic>ATP13A2<\/jats:italic> mutations. One patient had a prominent behavioral (autistic spectrum) presentation and the other a psychiatric (paranoid psychosis) presentation. Both had additional features, such as delayed milestones, ataxia, pyramidal signs, upgaze restriction, or impaired cognition to varying extent, but these were partly subtle or developed later in the disease course.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prominent behavioral or psychiatric features can be the first or most prominent manifestation of <jats:italic>ATP13A2<\/jats:italic>\u2010related disease. They may be a diagnostic clue in patients with ataxia, spasticity, or parkinsonism and may require an interdisciplinary neurological and psychiatric treatment approach.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13034","type":"journal-article","created":{"date-parts":[[2020,7,31]],"date-time":"2020-07-31T13:38:07Z","timestamp":1596202687000},"page":"838-841","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Psychiatric Manifestations of <scp><i>ATP13A2<\/i><\/scp> Mutations"],"prefix":"10.1002","volume":"7","author":[{"given":"Bettina","family":"Balint","sequence":"first","affiliation":[{"name":"Department of Clinical and Movement Neurosciences Queen Square  London United Kingdom"},{"name":"Department of Neurology University Hospital  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana","family":"Damasio","sequence":"additional","affiliation":[{"name":"Department of Neurology Oporto University Hospital Center  Porto Portugal"},{"name":"Institute for Molecular and Cell Biology, Institute for Research and Innovation in Health, Oporto University  Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4706-6245","authenticated-orcid":false,"given":"Francesca","family":"Magrinelli","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences Queen Square  London United Kingdom"},{"name":"Department of Neurosciences Biomedicine and Movement Sciences, University of Verona  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Guerreiro","sequence":"additional","affiliation":[{"name":"Center for Neurodegenerative Science, Van Andel Institute  Grand Rapids Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose","family":"Bras","sequence":"additional","affiliation":[{"name":"Center for Neurodegenerative Science, Van Andel Institute  Grand Rapids Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8185-286X","authenticated-orcid":false,"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences Queen Square  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1884"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww111"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww307"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22947"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds089"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22996"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1052"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000260963.08711.08"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2010.10.011"},{"key":"e_1_2_7_11_1","volume-title":"GeneReviews\u00ae","author":"Gregory 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