https://m2.mtmt.hu/ hun 2026-09-23 09:28 JournalArticle 32918455 VALIDATED true 0 false 2026-09-21T11:55:23.327+0000 2026-02-20T18:33:20.757+0000 2022-07-05T05:48:14.544+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin Csajbók Edit (SE_KK_Admin5_CSE, admin) true 10015544 2026-09-02T08:24:31.071+0000 2023-07-10T10:02:24.031+0000 true 10062724 Olasz Tamás /api/admin/10062724 Admin Olasz Tamás (SE_KK_Admin5_OT, admin) true 10062724 Admin 10101397 /api/admin/10101397 Tokai Tamás (Központi 2-3, admin) Tokai Tamás true true 2026-01-20T15:16:00.571+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Csaban, Dora true true /api/journal/30768 REVIEWED NEUROLOGICAL SCIENCES 1590-1874 1590-3478 true false 30768 false 30768 true 1590-1874 1590-3478 Journal FOREIGN 43 9 5289 5300 5289 12 2022 Introduction Early-onset dementias (EOD) are predominantly genetically determined, but the underlying disease-causing alterations are often unknown. The most frequent forms of EODs are early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD). Patients This study included 120 Hungarian patients with EOD (48 familial and 72 sporadic) which had a diagnosis of EOAD (n = 49), FTD (n = 49), or atypical dementia (n = 22). Results Monogenic dementia was detected in 15.8% of the patients. A pathogenic hexanucleotide repeat expansion in the C9ORF72 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 (APP, PSEN1, PSEN2, GRN). A compound heterozygous alteration of the TREM2 gene was identified in one patient and heterozygous damaging variants in the CSF1R and PRNP 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 APOE genotype had a high odds ratio for both the APOE e4/3 and the e4/4 genotype (OR = 2.7 (95%CI = 1.3-5.9) and OR = 6.5 (95%CI = 1.4-29.2), respectively). In TREM2, SORL1, and ABCA7 genes, 5 different rare damaging variants were detected as genetic risk factors. These alterations were not present in the control group. Conclusion 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. Funding 2015626 /api/funding/2015626 (KTIA_13_NAP-A-III/6) false true Funding 2015627 /api/funding/2015627 (OTKA139010) Támogató: Hungarian National Research, Development and Innovation Office false true Funding 2015628 /api/funding/2015628 (TKP2021-EGA-25) false true Funding 2015629 /api/funding/2015629 János Bolyai Research Scholarship of the Hungarian Academy of Sciences(TKP2021-NVA-15) false true Funding 2015630 /api/funding/2015630 (OTKA PD 134449) false true Funding 2015631 /api/funding/2015631 (TKP2021-EGA-02) Támogató: NKFIH false true Funding 2015632 /api/funding/2015632 Hungarian Brain Research Program(2017-1.2.1-NKP-2017-00002) Támogató: NKFIH false true Funding 2015633 /api/funding/2015633 (TKP2021-EGA-32) Támogató: NKFIH false true 2022 true true true false true false GREEN 2026-09-21 true http://publicatio.bibl.u-szeged.hu/24756 8 0 8 7 1 7 8 8 8 8 8 7 7 7 1 0 8 7 8 7 0 8 8 Folyóiratcikk Journal Article 24 8 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2022 0 1 1 1 1 2023 0 2 2 2 2 2024 0 2 1 2 1 2025 0 2 2 2 2 2026 0 1 1 1 1 Q1 false 10032403,10002781,10028549 false false false 2022-07-24T09:37:54.814+0000 Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I); Méréstechnika és Információs Rendszerek Tanszék (BME / VIK); Neurológiai Klinika (SE / AOK / K); Neurológiai Klinika (SZTE / SZAOK) 12 34 4 12 0 true 10101397 Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 102281052 /api/authorship/102281052 Csaban, Dora [Csabán, Dóra (biomérnök), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 1 0.083 true false false Author 10059951 /api/author/10059951 Csabán Dóra (biomérnök) Csabán Dóra true 10059951 true Csaban Dora true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281053 /api/authorship/102281053 Illes, Anett [Illés, Anett (Molekuláris bioló...), szerző] 2 0.083 false false false Author 10048349 /api/author/10048349 Illés Anett (Molekuláris biológia, Genetika) Illés Anett true 10048349 true Illes Anett true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281054 /api/authorship/102281054 Renata, Toth-Bencsik [Tóth-Bencsik, Renáta (Molekuláris bioló...), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 3 0.083 false false false Author 10046056 /api/author/10046056 Tóth-Bencsik Renáta (Molekuláris biológia, genetika) Tóth-Bencsik Renáta true 10046056 true Renata Toth-Bencsik true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281055 /api/authorship/102281055 Balicza, Peter [Balicza, Péter (neurogenetika), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 4 0.083 false false false Author 10032403 /api/author/10032403 Balicza Péter (neurogenetika) Balicza Péter true 10032403 true Balicza Peter true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281056 /api/authorship/102281056 Pentelenyi, Klara [Pentelényi, Klára (molekuláris bioló...), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 5 0.083 false false false Author 10032402 /api/author/10032402 Pentelényi Klára (molekuláris biológia, genetika) Pentelényi Klára true 10032402 true Pentelenyi Klara true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281057 /api/authorship/102281057 Molnar, Viktor [Molnár, Viktor (tumor biológia), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 6 0.083 false false false Author 10015602 /api/author/10015602 Molnár Viktor (tumor biológia) Molnár Viktor true 10015602 true Molnar Viktor true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281058 /api/authorship/102281058 Gezsi, Andras [Gézsi, András (bioinformatika), szerző] Méréstechnika és Információs Rendszerek Tanszék (BME / VIK) 7 0.083 false false false Author 10028549 /api/author/10028549 Gézsi András (bioinformatika) Gézsi András true 10028549 true Gezsi Andras true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281059 /api/authorship/102281059 Grosz, Zoltan [Grosz, Zoltán (Neurológia), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 8 0.083 false false false Author 10040725 /api/author/10040725 Grosz Zoltán (Neurológia) Grosz Zoltán true 10040725 true Grosz Zoltan true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281060 /api/authorship/102281060 Gal, Aniko [Gál, Anikó (Molekuláris bioló...), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 9 0.083 false false false Author 10013908 /api/author/10013908 Gál Anikó (Molekuláris biológia-genetika) Gál Anikó true 10013908 true Gal Aniko true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281061 /api/authorship/102281061 Kovacs, Tibor [Kovács, Tibor (Dementia, Dystoni...), szerző] Neurológiai Klinika (SE / AOK / K) 10 0.083 false false false Author 10011778 /api/author/10011778 Kovács Tibor (Dementia, Dystonia, Stroke, Neuropathológia és liquordiagnosztika) Kovács Tibor true 10011778 true Kovacs Tibor true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281062 /api/authorship/102281062 Klivenyi, Peter [Klivényi, Péter (Neurológia), szerző] Neurológiai Klinika (SZTE / SZAOK) 11 0.083 false false false Author 10010436 /api/author/10010436 Klivényi Péter (Neurológia) Klivényi Péter true 10010436 true Klivenyi Peter true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 102281063 /api/authorship/102281063 Molnar, Maria Judit ✉ [Molnár, Mária Judit (Neurológia), szerző] Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I) 12 0.083 false true true Author 10002781 /api/author/10002781 Molnár Mária Judit (Neurológia) Molnár Mária Judit true 10002781 true Molnar Maria Judit true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PublicationIdentifier 21239706 /api/publicationidentifier/21239706 DOI: 10.1007/s10072-022-06168-8 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(2022) NEUROLOGICAL SCIENCES 1590-1874 1590-3478 43 9 5289-5300<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10059951"><a href="/gui2/?type=authors&mode=browse&sel=10059951" target="_blank">Csaban Dora (<span class="authorship-author-name">Csabán Dóra</span> <span class="authorAux-mtmt"> biomérnök</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048349"><a href="/gui2/?type=authors&mode=browse&sel=10048349" target="_blank">Illes Anett (<span class="authorship-author-name">Illés Anett</span> <span class="authorAux-mtmt"> Molekuláris biológia, Genetika</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10046056"><a href="/gui2/?type=authors&mode=browse&sel=10046056" target="_blank">Renata Toth-Bencsik (<span class="authorship-author-name">Tóth-Bencsik Renáta</span> <span class="authorAux-mtmt"> Molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10032403"><a href="/gui2/?type=authors&mode=browse&sel=10032403" target="_blank">Balicza Peter (<span class="authorship-author-name">Balicza Péter</span> <span class="authorAux-mtmt"> neurogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10032402"><a href="/gui2/?type=authors&mode=browse&sel=10032402" target="_blank">Pentelenyi Klara (<span class="authorship-author-name">Pentelényi Klára</span> <span class="authorAux-mtmt"> molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015602"><a href="/gui2/?type=authors&mode=browse&sel=10015602" target="_blank">Molnar Viktor (<span class="authorship-author-name">Molnár Viktor</span> <span class="authorAux-mtmt"> tumor biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10028549"><a href="/gui2/?type=authors&mode=browse&sel=10028549" target="_blank">Gezsi Andras (<span class="authorship-author-name">Gézsi András</span> <span class="authorAux-mtmt"> bioinformatika</span>) </a> </span> <span class="author-affil"><span title="Budapesti Műszaki és Gazdaságtudományi Egyetem">BME</span>/<span title="Villamosmérnöki és Informatikai Kar">VIK</span>/Méréstechnika és Információs Rendszerek Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040725"><a href="/gui2/?type=authors&mode=browse&sel=10040725" target="_blank">Grosz Zoltan (<span class="authorship-author-name">Grosz Zoltán</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10013908"><a href="/gui2/?type=authors&mode=browse&sel=10013908" target="_blank">Gal Aniko (<span class="authorship-author-name">Gál Anikó</span> <span class="authorAux-mtmt"> Molekuláris biológia-genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10011778"><a href="/gui2/?type=authors&mode=browse&sel=10011778" target="_blank">Kovacs Tibor (<span class="authorship-author-name">Kovács Tibor</span> <span class="authorAux-mtmt"> Dementia, Dystonia, Stroke, Neuropathológia és ...</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Neurológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10010436"><a href="/gui2/?type=authors&mode=browse&sel=10010436" target="_blank">Klivenyi Peter (<span class="authorship-author-name">Klivényi Péter</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Szegedi Tudományegyetem">SZTE</span>/<span title="Szent-Györgyi Albert Orvostudományi Kar">SZAOK</span>/Neurológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnar Maria Judit ✉ (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;32918455" target="_blank">Genetic landscape of early-onset dementia in Hungary</a></div> <div> <span class="journal-title">NEUROLOGICAL SCIENCES</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1590-1874">1590-1874</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1590-3478">1590-3478</a>)</span>: <span class="journal-volume">43</span> <span class="journal-issue">9</span> <span class="page"> pp 5289-5300 </span> <span class="year">(2022)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1007/s10072-022-06168-8" target="_blank" href="https://doi.org/10.1007/s10072-022-06168-8"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000815576900001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000815576900001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85132816092" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85132816092"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="35752680" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=35752680&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="24756" target="_blank" href="http://publicatio.bibl.u-szeged.hu/24756"> SZTE Publicatio </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Dermatology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Neurology (clinical)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Psychiatry and Mental Health&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 8</span> | Független: 7 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 8 | Scopus jelölt:&nbsp;8 | WoS/Scopus jelölt:&nbsp;8 | DOI jelölt:&nbsp;8 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;32918455&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 8 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 32918455</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">WOS TAGGED</span> </div> <div class="funder"> (KTIA_13_NAP-A-III/6), (OTKA139010) Támogató: OTKA, (TKP2021-EGA-25), János Bolyai Research Scholarship of the Hungarian Academy of Sciences(TKP2021-NVA-15), (OTKA PD 134449), (TKP2021-EGA-02) Támogató: NKFIH, Hungarian National Brain Research Program(2017-1.2.1-NKP-2017-00002), (TKP2021-EGA-32) Támogató: NKFIH </div> <div class="lastModified">Utolsó módosítás: 2026.02.20. 19:33 Balázs András (MTMT Központ, admin) </div> <div class="lockedBy">Központi kezelésű 2026.01.20. 16:16 Tokai Tamás (Központi 2-3, admin) </div> </div></div>