{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T17:13:44Z","timestamp":1783358024526,"version":"3.54.6"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,3,22]],"date-time":"2025-03-22T00:00:00Z","timestamp":1742601600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100031478","name":"NextGenerationEU","doi-asserted-by":"publisher","award":["LX22NPO5107 (MEYS)"],"award-info":[{"award-number":["LX22NPO5107 (MEYS)"]}],"id":[{"id":"10.13039\/100031478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Leucine\u2010rich repeat kinase 2 (\n                      <jats:italic>LRRK2<\/jats:italic>\n                      ) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The aim was to evaluate the frequency and phenotype of p.L1795F in early\u2010onset PD (EOPD) and familial PD compared to healthy controls (HC) in Central Europe.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing was used to screen 219 EOPD and familial PD patients of Central Europeans compared to HC. Sanger sequencing assessed segregation. Detailed clinical phenotype was evaluated for all positive carriers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>p.L1795F was identified in 1.37% (3\/219) and 3.23% of familial cases (3\/93), with no carriers among HCs (0\/303). Segregation analysis confirmed association with PD. Carriers were traced to the eastern Slovak\u2013Hungarian region. It also appears to be associated with a more aggressive phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our data indicate that p.L1795F contributes to PD in Central Europe. Further exploration in larger cohorts is warranted to establish its contribution to global PD risk.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70045","type":"journal-article","created":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T11:45:15Z","timestamp":1742730315000},"page":"1132-1139","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prevalence and Clinical Characteristics of the\n                    <scp>\n                      <i>LRRK2<\/i>\n                    <\/scp>\n                    p.\n                    <scp>L1795F<\/scp>\n                    Variant in Central Europeans with Early\u2010Onset and Familial Parkinson's Disease"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1519-1535","authenticated-orcid":false,"given":"Miriam","family":"Ostrozovicova","sequence":"first","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"},{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gertrud","family":"Tamas","sequence":"additional","affiliation":[{"name":"Department of Neurology Semmelweis University  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agsha","family":"Atputhavadivel","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Dusek","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre of Clinical Neuroscience First Faculty of Medicine, Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Grofik","sequence":"additional","affiliation":[{"name":"Department of Neurology Jessenius Faculty of Medicine, Comenius University and University Hospital Martin  Martin Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5242-8725","authenticated-orcid":false,"given":"Petr","family":"Holly","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre of Clinical Neuroscience First Faculty of Medicine, Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9732-8947","authenticated-orcid":false,"given":"Robert","family":"Jech","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre of Clinical Neuroscience First Faculty of Medicine, Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Kalinova","sequence":"additional","affiliation":[{"name":"Division of Molecular Biology and Biochemistry Gottfried Schatz Research Center, Medical University of Graz  Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Klivenyi","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Szeged  Szeged Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Kovacs","sequence":"additional","affiliation":[{"name":"Department of Neurology and HUN\u2010REN\u2013PTE Clinical Neuroscience MR Research Group University of Pecs, Medical School  P\u00e9cs Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Kulcsarova","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"},{"name":"Department of Clinical Neurosciences Scientific Park MEDIPARK, P.J. Safarik University  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egon","family":"Kurca","sequence":"additional","affiliation":[{"name":"Department of Neurology Jessenius Faculty of Medicine, Comenius University and University Hospital Martin  Martin Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Lackova","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Lewis","sequence":"additional","affiliation":[{"name":"Royal Veterinary College  London United Kingdom"},{"name":"Department of Neurodegenerative Disease UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Magocova","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Marekova","sequence":"additional","affiliation":[{"name":"Department of Medical and Clinical Biochemistry Faculty of Medicine, P.J. Safarik University in Kosice  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2354-660X","authenticated-orcid":false,"given":"Ai","family":"Nagano","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4626-9588","authenticated-orcid":false,"given":"Jan","family":"Necpal","sequence":"additional","affiliation":[{"name":"Department of Neurology Zvolen Hospital  Zvolen Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0734-6878","authenticated-orcid":false,"given":"David","family":"Pinter","sequence":"additional","affiliation":[{"name":"Department of Neurology and HUN\u2010REN\u2013PTE Clinical Neuroscience MR Research Group University of Pecs, Medical School  P\u00e9cs Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslava","family":"Rabajdova","sequence":"additional","affiliation":[{"name":"Department of Medical and Clinical Biochemistry Faculty of Medicine, P.J. Safarik University in Kosice  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evzen","family":"Ruzicka","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre of Clinical Neuroscience First Faculty of Medicine, Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tereza","family":"Serranova","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre of Clinical Neuroscience First Faculty of Medicine, Charles University and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9167-1624","authenticated-orcid":false,"given":"Katarzyna","family":"Smilowska","sequence":"additional","affiliation":[{"name":"Department of Neurology Silesian Centre of Neurology Katowice  Katowice Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krisztina","family":"Soos","sequence":"additional","affiliation":[{"name":"Department of Neurology Semmelweis University  Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1134-7029","authenticated-orcid":false,"given":"Igor","family":"Straka","sequence":"additional","affiliation":[{"name":"Second Department of Neurology Comenius University in Bratislava Faculty of Medicine, University Hospital Bratislava  Bratislava Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Svorenova","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Valkovic","sequence":"additional","affiliation":[{"name":"Second Department of Neurology Comenius University in Bratislava Faculty of Medicine, University Hospital Bratislava  Bratislava Slovak Republic"},{"name":"Institute of Normal and Pathological Physiology, Centre of Experimental Medicine Slovak Academy of Sciences  Bratislava Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Zarubova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuzana","family":"Gdovinova","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2420-4449","authenticated-orcid":false,"given":"Mie","family":"Rizig","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-8715","authenticated-orcid":false,"given":"Matej","family":"Skorvanek","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the CEGEMOD consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41531-023-00608-8"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20220161"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000278115.50741.4e"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13024-016-0097-0"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.12.021"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16165"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26424"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2021.05.004"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01061"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2022.05.012"},{"key":"e_1_2_9_12_1","unstructured":"ChaoK.GnomAD v4.0;https:\/\/gnomad.broadinstitute.org\/news\/2023-11-gnomad-v4-0\/."},{"key":"e_1_2_9_13_1","unstructured":"No title.https:\/\/pdgenetics.shinyapps.io\/VariantBrowser."},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41531-023-00608-8"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-023-00668-9"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-019-0301-2"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2008.10.008"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-011-9641-0"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70045","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:59:57Z","timestamp":1760968797000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,22]]},"references-count":17,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/mdc3.70045"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70045","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-4378197\/v1","asserted-by":"object"}]},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,22]]},"assertion":[{"value":"2024-07-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}