{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T17:13:43Z","timestamp":1783358023560,"version":"3.54.6"},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"20","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Absztrakt: <\/jats:title>\n                <jats:p>A nukle\u00e1risan k\u00f3dolt <jats:italic>POLG<\/jats:italic>-g\u00e9n feh\u00e9rjeterm\u00e9ke kulcsszerepet\n                    j\u00e1tszik a mitokondri\u00e1lis DNS replik\u00e1ci\u00f3j\u00e1nak fenntart\u00e1s\u00e1ban, \u00e9s hib\u00e1ja k\u00fcl\u00f6nb\u00f6z\u0151\n                    s\u00falyoss\u00e1g\u00fa, t\u00f6bb szervrendszert \u00e9rint\u0151 betegs\u00e9geket okoz. A klinikai spektrum\n                    rendk\u00edv\u00fcl t\u00e1g, a leggyakrabban el\u0151fordul\u00f3 t\u00fcnetek k\u00f6z\u00e9 tartozik t\u00f6bbek k\u00f6z\u00f6tt a\n                    ptosis, a myoclonus, az epilepszia, a myopathia, a szenzoros ataxia, a\n                    parkinsonizmus, a kognit\u00edv hanyatl\u00e1s \u00e9s az infertilit\u00e1s is. Ma m\u00e1r ismert, hogy\n                    a Parkinson-k\u00f3r kialakul\u00e1sa sor\u00e1n a mitokondri\u00e1lis diszfunkci\u00f3 is nagy\n                    jelent\u0151s\u00e9ggel b\u00edr a substantia nigra dopaminerg sejtjeinek elhal\u00e1s\u00e1ban. Ez\u00e9rt a\n                        <jats:italic>POLG<\/jats:italic>-g\u00e9nben bek\u00f6vetkez\u0151 v\u00e1ltoz\u00e1sok befoly\u00e1solhatj\u00e1k a\n                    k\u00fcl\u00f6nb\u00f6z\u0151 \u00f6r\u00f6kletes neurodegenerat\u00edv betegs\u00e9geknek, \u00edgy a monog\u00e9nes\n                    parkinsonizmusnak a kialakul\u00e1s\u00e1t is. A Parkinson-k\u00f3r \u00e9s a <jats:italic>POLG<\/jats:italic>\n                    kapcsolat\u00e1r\u00f3l azonban m\u00e9g kev\u00e9s az el\u00e9rhet\u0151 inform\u00e1ci\u00f3, \u00e9s ez id\u00e1ig a magyar\n                    popul\u00e1ci\u00f3ra vonatkoz\u00f3 adatok sem \u00e1lltak rendelkez\u00e9s\u00fcnkre. Vizsg\u00e1latunk sor\u00e1n 67\n                    magyar, a parkinsonizmus t\u00fcneteit mutat\u00f3 p\u00e1ciens eset\u00e9ben \u00fajgener\u00e1ci\u00f3s\n                    szekven\u00e1l\u00e1st v\u00e9gezt\u00fcnk, \u00e9s a <jats:italic>POLG<\/jats:italic>-g\u00e9nben tal\u00e1lhat\u00f3,\n                    potenci\u00e1lisan k\u00e1ros vari\u00e1nsokat elemezt\u00fck. 3 beteg eset\u00e9ben azonos\u00edtottunk\n                    potenci\u00e1lisan k\u00f3roki elt\u00e9r\u00e9st. K\u00f6zlem\u00e9ny\u00fcnkkel arra szeretn\u00e9nk felh\u00edvni a\n                    figyelmet, hogy a parkinsonizmus differenci\u00e1ldiagn\u00f3zisa sor\u00e1n az esetleges\n                        <jats:italic>POLG<\/jats:italic> genetikai \u00e9rintetts\u00e9g\u00e9t is figyelembe kell venni.\n                    K\u00fcl\u00f6n\u00f6sen olyan pluszt\u00fcnetek jelenl\u00e9tekor, mint az ophthalmoparesis, a nem\n                    vascularis t\u00edpus\u00fa feh\u00e9r\u00e1llom\u00e1nyi laesi\u00f3k, a pszichi\u00e1triai komorbidit\u00e1s \u00e9s a\n                    t\u00fcnetek viszonylag korai indul\u00e1sa. Kor\u00e1bbi irodalmi adatok \u00e9s saj\u00e1t\n                    tapasztalataink alapj\u00e1n \u00f6sszefoglaltuk a <jats:italic>POLG<\/jats:italic>-asszoci\u00e1lt\n                    parkinsonizmus lehets\u00e9ges diagnosztikai megk\u00f6zel\u00edt\u00e9s\u00e9t is. Orv Hetil. 2020;\n                    161(20): 821\u2013828.<\/jats:p>","DOI":"10.1556\/650.2020.31724","type":"journal-article","created":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T11:51:42Z","timestamp":1588593102000},"page":"821-828","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":3,"title":["Az \u00f6r\u00f6kletes Parkinson-k\u00f3r mint a POLG-g\u00e9n k\u00e1rosod\u00e1s\u00e1nak \u00faj klinikai megjelen\u00e9si form\u00e1ja"],"prefix":"10.1556","volume":"161","author":[{"given":"Anett","family":"Ill\u00e9s","sequence":"first","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e9ter","family":"Balicza","sequence":"additional","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anik\u00f3","family":"G\u00e1l","sequence":"additional","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kl\u00e1ra","family":"Pentel\u00e9nyi","sequence":"additional","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00f3ra","family":"Csab\u00e1n","sequence":"additional","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e1s","family":"G\u00e9zsi","sequence":"additional","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"\u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Genomikai Medicina \u00e9s Ritka Betegs\u00e9gek Int\u00e9zete, Semmelweis Egyetem Budapest, \u00dcll\u0151i \u00fat 78., 1083"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"link":[{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/161\/20\/article-p821.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/akjournals.com\/downloadpdf\/journals\/650\/161\/20\/article-p821.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,11]],"date-time":"2021-10-11T01:12:43Z","timestamp":1633914763000},"score":1,"resource":{"primary":{"URL":"https:\/\/akjournals.com\/view\/journals\/650\/161\/20\/article-p821.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":0,"journal-issue":{"issue":"20"},"URL":"https:\/\/doi.org\/10.1556\/650.2020.31724","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5]]}}}