Abstract
Autosomal recessive and X-linked spinocerebellar ataxias are a diverse group of genetic diseases that begin more frequently in childhood. However, the evolving current diagnostic possibilities at the enzymatic or DNA level confirm the first manifestation of these diseases in adulthood; thus the number of verified diagnoses is increasing and more precise genotype / phenotype correlation of the disease.
In the article we discuss the possibilities of complex differential diagnostics in neurological practice and draw attention to the most common diseases in this area.