Abstract
Autosomal recessive and X-linked spinocerebellar ataxias are a heterogeneous group of genetic diseases emerging more frequently in children age. Emerging current diagnostic possibilities at the level of enzymatic or DNA, confirm the first manifestation of the disease Even in adulthood, the number of steps verified diagnoses is increasing and refining genotype / phenotypic correlation of disease.
Article discusses the possibility of complex differential diagnosis in neurological practice and draw attention to the most common diseases in this area. Keywords: autosomal recessive spinocerebellar ataxia, X-linked spinocerebellar ataxia, differential diagnosis, DNA diagnostics, FXTAS.