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Autosomal dominant spinocerebellar ataxias

Publication at First Faculty of Medicine, Second Faculty of Medicine |
2007

Abstract

Advances at the cellular and physiological levels provide new information about the cerebellum, its functions and the mechanisms leading to the disease. In addition, current genetic knowledge makes it possible to redefine the original spinocerebellar, olivopontocerebellar, or according to Harding's cerebellar ataxias at the level of DNA analysis.

At present, the group of autosomal dominant spinocerebellar ataxias includes 29 diseases, in the world's DNA laboratories routine diagnostics is introduced in 10 of them, in the Czech Republic there are currently available AD SCA 1-3, 6-8, DRPLA, SCA10 examinations, 12 and 17 should be available soon. However, there are a number of other diseases and syndromes that can mitigate these diseases.

The problem of current neurological practice in this area is to deal with exponentially growing knowledge and combine it with the possibilities of laboratory diagnostics.