hereditary ataxia

the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or maternal (mitochondrial). the autosomal dominant ataxias can be further subdivided into the progressive spinocerebellar ataxias (scas) and the episodic ataxias (eas). the pathology usually affects more than the cerebellum involving the posterior columns, pyramidal tracts, pontine nuclei and basal ganglia, with corresponding neurologic signs. in this article, we concentrate on genetic causes of ataxia, their clinical manifestations and treatment.