Publication at Central Library of Charles University, Second Faculty of Medicine |
1998
Abstract
Spinocerebellar ataxias are a heterogenous group of diseases. Only in the last years the diagnostic progress was made by identification of molecular disorders.
The aim of this project is to implement molecular genetic methods (analysis of amplificated regions of GAG, GAA repeats). Further aim is to establish the incidence of autosomal dominant spinocerebellar ataxias (SCA) type 1-3, 6, 7 and Friedreich ataxia (FA) in Czech republic, to evaluate correlations of phenotype - genotype, and to exclude inherited metabolic diseases that are imitating spinocerebellar ataxias.