Neurol. praxi. 2007;8(5):272-276

Autosomálně recesivní a X-vázané ataxie

MUDr. Alena Zumrová, Ph.D.3, RNDr. Zuzana Mušová1, MUDr. Eva Košťálová2, Ludmila Apltová1, MUDr. Anna Křepelová, CSc.1, MUDr. Kateřina Paděrová3
1 Ústav biologie a lékařské genetiky 2. LF UK a FN, Praha
2 Ústav dědičných metabolických poruch 1. LF UK a VFN, Praha
3 Klinika dětské neurologie 2. LF UK a Centrum pro epilepsie FN Motol, Praha

Autosomálně recesivní a X-vázané spinocerebelární ataxie jsou různorodou skupinou genetických onemocnění začínajících častěji v dětském věku. Rozvíjející se aktuální možnosti diagnostiky na úrovni enzymatické či DNA však potvrzují první manifestaci těchto chorob i v dospělosti; počet takto verifikovaných diagnóz se neustále zvyšuje a zpřesňuje genotyp/fenotypovou korelaci onemocnění. V článku diskutujeme možnosti složité diferenciální diagnostiky v neurologické praxi a upozorňujeme na nejčastější choroby z této oblasti.

Keywords: autosomálně recesivní spinocerebelární ataxie, X-vázané spinocerebelární ataxie, diferenciální diagnostika, DNA diagnostika, FXTAS

Published: December 1, 2007  Show citation

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Zumrová A, Mušová Z, Košťálová E, Apltová L, Křepelová A, Paděrová K. Autosomálně recesivní a X-vázané ataxie. Neurol. praxi. 2007;8(5):272-276.
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