An update on inherited ataxias

Abstract

This article provides an overview of recent advances in the field of inherited ataxias. In the past few years, new causative mutations that broaden the diagnostic spectrum of ataxias have been described. In addition, important advances have unveiled the molecular pathology of these disorders, resulting in a classification based on the pathogenetic pathways rather than clinical or genetic features. As concepts of treatment principles emerge, debate continues as to whether such concepts might be applicable to more than one genetically defined disorder or whether each ataxia disorder requires its own unique therapeutic approach. New clinical assessment instruments have been developed that will facilitate future interventional trials. A recent phase 2 clinical trial suggested a positive effect of high-dose idebenone in Friedreich's ataxia, raising hopes that a treatment option will soon be available for this disorder.