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The most frequent forms of EODs are early-onset Alzheimer\u2019s disease (EOAD) and frontotemporal dementia (FTD).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Patients<\/jats:title>\n                <jats:p>This study included 120 Hungarian patients with EOD (48 familial and 72 sporadic) which had a diagnosis of EOAD (<jats:italic>n<\/jats:italic>\u2009=\u200949), FTD (<jats:italic>n<\/jats:italic>\u2009=\u200949), or atypical dementia (<jats:italic>n<\/jats:italic>\u2009=\u200922).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Monogenic dementia was detected in 15.8% of the patients. A pathogenic hexanucleotide repeat expansion in the <jats:italic>C9ORF72<\/jats:italic> gene was present in 6.7% of cases and disease-causing variants were detected in other known AD or FTD genes in 6.7% of cases (<jats:italic>APP<\/jats:italic>, <jats:italic>PSEN1<\/jats:italic>, <jats:italic>PSEN2<\/jats:italic>, <jats:italic>GRN<\/jats:italic>). A compound heterozygous alteration of the <jats:italic>TREM2<\/jats:italic> gene was identified in one patient and heterozygous damaging variants in the <jats:italic>CSF1R<\/jats:italic> and <jats:italic>PRNP<\/jats:italic> genes were detected in two other cases. In two patients, the coexistence of several heterozygous damaging rare variants associated with neurodegeneration was detected (1.7%). The <jats:italic>APOE<\/jats:italic> genotype had a high odds ratio for both the <jats:italic>APOE<\/jats:italic> \u025b4\/3 and the \u025b4\/4 genotype (OR\u2009=\u20092.7 (95%CI\u2009=\u20091.3\u20135.9) and OR\u2009=\u20096.5 (95%CI\u2009=\u20091.4\u201329.2), respectively). In <jats:italic>TREM2<\/jats:italic>, <jats:italic>SORL1<\/jats:italic>, and <jats:italic>ABCA7<\/jats:italic> genes, 5 different rare damaging variants were detected as genetic risk factors. These alterations were not present in the control group.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Based on our observations, a comprehensive, targeted panel of next-generation sequencing (NGS) testing investigating several neurodegeneration-associated genes may accelerate the path to achieve the proper genetic diagnosis since phenotypes are present on a spectrum. This can also reveal hidden correlations and overlaps in neurodegenerative diseases that would remain concealed in separated genetic testing.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10072-022-06168-8","type":"journal-article","created":{"date-parts":[[2022,6,25]],"date-time":"2022-06-25T19:02:27Z","timestamp":1656183747000},"page":"5289-5300","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic landscape of early-onset dementia in Hungary"],"prefix":"10.1007","volume":"43","author":[{"given":"Dora","family":"Csaban","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anett","family":"Illes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toth-Bencsik","family":"Renata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Balicza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klara","family":"Pentelenyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Molnar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andras","family":"Gezsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoltan","family":"Grosz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniko","family":"Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tibor","family":"Kovacs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Klivenyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9350-1864","authenticated-orcid":false,"given":"Maria Judit","family":"Molnar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,25]]},"reference":[{"key":"6168_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.neurobiolaging.2020.02.008","volume":"72","author":"O Ramos-Campoy","year":"2020","unstructured":"Ramos-Campoy O, Antonell A, Falg\u00e0s N et al (2020) Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants. 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The study was confirmed by the Hungarian Scientific and Research Ethical Committee (No.44599\u20132\/2013\/EKU).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests. Maria Judit Molnar is an Advisory Board Member of Neurological Sciences.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This study was carried out in accordance with the recommendations of Hungarian Scientific and Research Ethical\u00a0Committee (37\/2014 TUKEB) with written informed consent from all subjects.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}