Neurol. praxi. 2007;8(5):277-282

Autosomálně dominantní spinocerebelární ataxie

MUDr. Alena Zumrová, Ph.D.2, MUDr. Marta Kopečková1, MUDr. Zuzana Mušová1, MUDr. Anna Křepelová, CSc.1, Ludmila Apltová1, MUDr. Kateřina Paděrová2
1 Ústav biologie a lékařské genetiky 2. LF UK a FN, Praha
2 Klinika dětské neurologie 2. LF UK a Centrum pro epilepsie FN Motol, Praha

Pokroky na buněčné a fyziologické úrovni poskytují nové informace o mozečku, jeho funkcích i mechanizmech vedoucích k onemocnění. Kromě toho umožňují aktuální genetické poznatky redefinovat původní oblast spinocerebelárních, olivopontocerebelárních, či dle Hardingové cerebelárních ataxií na úrovni analýzy DNA. V současné době zahrnuje skupina autosomálně dominantních spinocerebelárních ataxií 29 chorob, ve světových DNA laboratořích je rutinní diagnostika zavedena u 10 z nich, v České republice je v současné době k dispozici vyšetření AD SCA 1–3, 6–8, DRPLA, vyšetření SCA10, 12 a 17 by mělo být dostupné v nejbližší době. Existuje však řada dalších chorob a syndromů, které mohou tyto choroby mitigovat. Problémem současné neurologické praxe v této oblasti je vypořádat se s exponenciálně narůstajícími poznatky a skloubit je s možnostmi laboratorní diagnostiky.

Keywords: spinocerebelární ataxie, diferenciální diagnostika, DNA diagnostika

Published: December 1, 2007  Show citation

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Zumrová A, Kopečková M, Mušová Z, Křepelová A, Apltová L, Paděrová K. Autosomálně dominantní spinocerebelární ataxie. Neurol. praxi. 2007;8(5):277-282.
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