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Autosomal dominant spinocerebellar ataxias: Review

Publication at Faculty of Medicine in Pilsen |
2018

Abstract

The hereditary ataxias are highly heterogenous group of diseases with typical phenotype, including gait ataxia, often accompanied by uncoordinated movements of the eyes, hands, speech disorders and cerebellar atrophy. They can be subdivided into subgroups according to their inheritance on autosomal dominant, autosomal recessive, X-linked or mitochondrial hereditary, then by gene mutation of chromosomal locus.

This review article discusses in more detail the group of autosomal dominant spinocerebellar ataxias.