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  • 1 Pécsi Tudományegyetem, Általános Orvostudományi Kar Orvosi Genetikai és Gyermekfejlődéstani Intézet Pécs Szigeti út 12. 7624
  • 2 Veszprém Megyei Csolnoky Ferenc Kórház Neurológiai és Stroke Osztály Veszprém
  • 3 Fejér Megyei Szent György Kórház Neurológiai Osztály Székesfehérvár
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Az autoszomális domináns cerebellaris ataxiák örökletes neurodegeneratív betegségek. Az ataxiák még néhány évtizeddel ezelőtt is a legkevésbé megértett idegi rendellenességek közé tartoztak, de molekuláris hátterük tisztázása mára lehetőséget teremtett a pontos diagnózis megállapítására, és segítséget nyújtott számos olyan különös jelenség értelmezésében is, mint például a családon belül változatosan megjelenő fenotípus. A spinocerebellaris ataxiák patogenezisének megismerése esélyt kínálhat sikeres terápiák kifejlesztésére, a jelenlegi, pusztán tüneti kezelések helyett. A gyors egymásutánban felfedezett gének és génlocusok, valamint a kialakított ataxiaaltípusok azonban zavart is okozhatnak a betegség pontos meghatározásában. Célunk rövid betekintést nyújtani e neurodegeneratív kórképek genetikai hátterébe, és a fontosabb ataxiaaltípusok jellemzésével megkönnyíteni az egyértelmű diagnózis felállítását.

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