{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T14:04:40Z","timestamp":1790085880720,"version":"4.0.1"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2026]]},"abstract":"<jats:p>Az \u00f6r\u00f6kletes spasticus paraplegia (hereditary spastic paraplegia, HSP) olyan jelent\u0151s klinikai \u00e9s genetikai heterogenit\u00e1ssal b\u00edr\u00f3, ritka, progressz\u00edv neurodegenerat\u00edv betegs\u00e9gcsoportot jelent, amit els\u0151sorban az als\u00f3 v\u00e9gtagokat \u00e9rint\u0151 spasticitas \u00e9s izomgyenges\u00e9g jellemez. Klinikai szempontb\u00f3l a HSP-ket \u201etiszta\u201d \u00e9s \u201ekomplik\u00e1lt\u201d form\u00e1kra osztj\u00e1k. Az SPG15 (ZFYVE26) a betegs\u00e9g ritka, autoszom\u00e1lis recessz\u00edv \u00f6r\u00f6kl\u0151d\u00e9s\u0171 alt\u00edpusa, amely jellemz\u0151en gyermekkorban jelentkez\u0151 kognit\u00edv hanyatl\u00e1ssal kezd\u0151dik, majd j\u00e1r\u00e1szavar \u00e9s spasticitas alakul ki; gyakran a corpus callosum elv\u00e9konyod\u00e1sa is megfigyelhet\u0151.\n\nJelen k\u00f6zlem\u00e9nyben egy 19 \u00e9ves n\u0151beteg eset\u00e9t ismertetj\u00fck, aki v\u00e9rrokonok k\u00f6z\u00f6tti h\u00e1zass\u00e1gban sz\u00fcletett, \u00e9s j\u00e1r\u00e1szavar, az als\u00f3 v\u00e9gtagok spasticitasa, valamint dysarthria miatt ker\u00fclt kivizsg\u00e1l\u00e1sra. Neurol\u00f3giai vizsg\u00e1lata motoros \u00e9s ment\u00e1lis retard\u00e1ci\u00f3t, k\u00e9toldali als\u00f3 v\u00e9gtagi spasticitast, fokozott m\u00e9ly\u00ednreflexeket, valamint az agyi MRI-vizsg\u00e1laton a corpus callosum elv\u00e9konyod\u00e1s\u00e1t, feh\u00e9r\u00e1llom\u00e1nyi hiperintenzit\u00e1sokat \u00e9s a jellegzetes \u201ehi\u00fazf\u00fcl-jelet\u201d (lynx ear sign) mutatta. Az elektromiogr\u00e1fi\u00e1s vizsg\u00e1lat az als\u00f3 v\u00e9gtagokban kifejezett szenzorimotoros demieliniz\u00e1l\u00f3 polyneuropathi\u00e1t, tov\u00e1bb\u00e1 az el\u00fcls\u0151 szarvi motoneuronok \u00e9rintetts\u00e9g\u00e9re utal\u00f3 elt\u00e9r\u00e9seket igazolt. A klinikai \u00e9s radiol\u00f3giai leletek alapj\u00e1n indik\u00e1lt genetikai vizsg\u00e1lat a ZFYVE26 g\u00e9n 19-es exonj\u00e1ban homozig\u00f3ta mut\u00e1ci\u00f3t azonos\u00edtott: c.3382C&gt;T, p.Q1128*.<\/jats:p>","DOI":"10.18071\/isz.79.0357","type":"journal-article","created":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T13:33:12Z","timestamp":1790083992000},"page":"357-360","source":"Crossref","is-referenced-by-count":0,"title":["Ritka \u00f6r\u00f6kletes spasticus paraplegia a ZFYVE26 g\u00e9n homozig\u00f3ta mut\u00e1ci\u00f3j\u00e1val"],"prefix":"10.18071","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3674-7643","authenticated-orcid":false,"given":"Bet\u00fcl","family":"\u00d6zenc","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dogan Dinc","family":"Oge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin","family":"Yenilmez Yesildas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7411","published-online":{"date-parts":[[2026]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/a-rare-case-of-hereditary-spastic-paraplegia-with-homozygous-mutation-in-the-zfyve26-gene\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T13:33:12Z","timestamp":1790083992000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/a-rare-case-of-hereditary-spastic-paraplegia-with-homozygous-mutation-in-the-zfyve26-gene"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":0,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2026]]},"published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.79.0357","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]}}}