Corpus ID: 193741505

Juvenilní forma Huntingtonovy nemoci

@inproceedings{Roth2012JuvenilnFH,
  title={Juveniln{\'i} forma Huntingtonovy nemoci},
  author={D. Roth},
  year={2012}
}
Huntingtonova nemoc (HN) je autozomalně dominantně dědicne neurodegenerativni onemocněni s výskytem cca 1 : 10–15 000. Podstatou mutace je zmnoženi (expanze) poctu CAG tripletů v prvnim exonu. Při 40 a vice tripletech jedinec onemocni HN. Typický věk nastupu prvnich přiznaků u klasicke – adultni formy HN je mezi 35. – 50. rokem věku. Podstatně vzacněji (cca 5 % vsech připadů) se HN manifestuje v dětskem ci adolescentnim věku (juvenilni forma HN – JHN – arbitrarně definovana jako nemoc s… Expand

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