{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T09:54:57Z","timestamp":1777888497732,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2018,6,5]],"date-time":"2018-06-05T00:00:00Z","timestamp":1528156800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Parkinson\u2019s Disease"],"published-print":{"date-parts":[[2018,6,5]]},"abstract":"<jats:p>Kufor-Rakeb syndrome (KRS)\/PARK9 presents with autosomal recessive young onset Parkinson\u2019s disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous\/compound heterozygous inactivating mutations in ATP13A2. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous pathogenic variants in ATP13A2: c.217_218insG and c.3057delC. Allele frequency of the c.3057delC mutation was about 100 times higher in Ashkenazi controls in our study (1\/190\u200a=\u200a0.00526) and in the Genome Aggregation Database, (GnomAD, 27\/10132\u200a=\u200a0.002665) versus non-Ashkenazi controls worldwide in GnomAD (9\/264566\u200a=\u200a0.000034018, p\u200a&lt;\u200a0.0001). The c.217_218insG mutation is novel and not found in controls or GnomAD. The c.3057delC mutation should be included in the genetic workup of Ashkenazi YOPD patients.<\/jats:p>","DOI":"10.3233\/jpd-181360","type":"journal-article","created":{"date-parts":[[2018,6,26]],"date-time":"2018-06-26T15:08:08Z","timestamp":1530025688000},"page":"399-403","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":12,"title":["Kufor-Rakeb Syndrome\/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation"],"prefix":"10.1177","volume":"8","author":[{"given":"Rivka","family":"Inzelberg","sequence":"first","affiliation":[{"name":"Departments of Neurology and Neurosurgery, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Estrada-Cuzcano","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yael","family":"Laitman","sequence":"additional","affiliation":[{"name":"The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Els","family":"De Vriendt","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eitan","family":"Friedman","sequence":"additional","affiliation":[{"name":"Departments of Internal Medicine and Genetics and Biochemistry Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"},{"name":"The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albena","family":"Jordanova","sequence":"additional","affiliation":[{"name":"Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,6,23]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx070"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww307"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1038\/ng1884"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26243"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.281"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22996"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22728"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.08.015"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds089"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20511"},{"key":"ref011","first-page":"347","volume":"89","author":"Najimal-Din AS","year":"1994","journal-title":"Acta Neurol Scand"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.1364"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000310427.72236.68"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000304039.11891.29"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828f180e"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25462"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2016.08.006"}],"container-title":["Journal of Parkinson\u2019s Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JPD-181360","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JPD-181360","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JPD-181360","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T04:46:17Z","timestamp":1777610777000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JPD-181360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,5]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,6,5]]}},"alternative-id":["10.3233\/JPD-181360"],"URL":"https:\/\/doi.org\/10.3233\/jpd-181360","relation":{},"ISSN":["1877-7171","1877-718X"],"issn-type":[{"value":"1877-7171","type":"print"},{"value":"1877-718X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,5]]}}}