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In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports\/series. As such, we describe treatment response in an individual with Kufor-Rakeb syndrome-associated psychosis. His disease was caused by a homozygous novel loss-of-function\n                    <jats:italic>ATP13A2<\/jats:italic>\n                    variant (NM_022089.4, c.1970_1975del) that was characterized in this study. Our patient exhibited a good response to quetiapine monotherapy, which he has so far tolerated well. We also reviewed the literature and summarized all previous descriptions of antipsychotic treatment response. Although its use has infrequently been described in Kufor-Rakeb syndrome, quetiapine is commonly used in other degenerative parkinsonian disorders, given its lower propensity to cause extrapyramidal symptoms. As such, quetiapine should be considered in the treatment of Kufor-Rakeb syndrome-associated psychosis when antipsychotic therapy is deemed necessary.\n                  <\/jats:p>","DOI":"10.1007\/s10048-024-00767-7","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T05:01:57Z","timestamp":1721278917000},"page":"405-415","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy"],"prefix":"10.1007","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8151-1173","authenticated-orcid":false,"given":"Mark Ainsley","family":"Colijn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2601-510X","authenticated-orcid":false,"given":"Stephanie","family":"Vrijsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9533-7217","authenticated-orcid":false,"given":"Ping Yee Billie","family":"Au","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9947-2697","authenticated-orcid":false,"given":"Rania","family":"Abou El Asrar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9766-3163","authenticated-orcid":false,"given":"Marine","family":"Houdou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6650-3845","authenticated-orcid":false,"given":"Chris","family":"Van den Haute","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justyna","family":"Sarna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greg","family":"Montgomery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7822-2944","authenticated-orcid":false,"given":"Peter","family":"Vangheluwe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,18]]},"reference":[{"key":"767_CR1","unstructured":"Gregory A, Hayflick S (1993) Neurodegeneration with Brain Iron Accumulation Disorders Overview. 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KU Leuven Ethical Commission provided approval to work with human SHSY5Y cell lines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"No AI or AI-assisted technologies were used in the preparation or writing of this manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declaration of Generative AI and AI-assisted technologies in the writing process"}},{"value":"A longer version of this manuscript has previously been posted on the preprint server medRxiv (\n                      \n                      ). It has otherwise not been published elsewhere and is not under consideration for publication elsewhere.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Submission declaration"}},{"value":"MC has no conflicts of interest directly relevant to this paper. MC is a co-investigator for a RCT in generalized anxiety disorder sponsored by Sunovion and Sumitomo, and a study physician for a RCT in major depressive disorder partially funded by Otsuka (part of CAN-BIND). He also provides psychiatric consultation for the ATLAS study (Biogen).\u00a0He has not received any money from these companies for this work. PV is involved in a drug discovery program for ATP13A2 agonists for Parkinson\u2019s disease.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}