[Hereditary Cerebellar Ataxia]

Abstract

Most cases of hereditary cerebellar ataxia follow an autosomal dominant inheritance pattern and are classified as spinocerebellar ataxia. Although there is a high degree of genetic heterogeneity, the genotype can sometimes be inferred based on symptomatological and neuroradiological characteristics. Many types of spinocerebellar ataxia are caused by microsatellite repeat expansion mutations in translated or untranslated regions of the causative gene. Substantial progress has been made in elucidating the molecular pathogenesis leading to neurodegeneration, and new treatments for spinocerebellar ataxia are being developed.