Genetic Mutations and Treatment of Spinocerebellar Ataxias

Abstract

Cerebellar diseases and disturbs cause speed, amplitude and strength deficiency. Among cerebellar dysfunctions, the spinocerebellar ataxia is a pathology characterized by the presence of progressive cerebellar ataxia. Spinocerebellar ataxia has as its initial clinic manifestations the deterioration of equilibrium and coordination, beyond eye disturbances, progressive postural oscillation associated with dysarthria, dysphagia and pyramidal and extrapyramidal signs. Cerebellar ataxias are caused by a cerebellum disorder and its connections, which may be attributed by root causes in the cases of congenital and hereditary ataxias. This review brings a brief historical perspective about cerebellar functions and in addition, a discussion about a specific cerebellar dysfunction, spinocerebellar ataxia, emphasizing its physiology to a better comprehension of the disease, its clinic and the several types of this pathology.