Ataxia

Ataxia refers to incoordination that may occur in isolation or as part of many conditions. This article provides a framework for the clinical recognition and treatment of ataxia.

The development of genetic techniques, including next-generation sequencing, over the past 30 years has facilitated the characterization of many forms of ataxia, including spinocerebellar ataxia. Spinocerebellar ataxia type 27b was described as a late-onset hereditary ataxia, and it appears to be a common form of spinocerebellar ataxia. The genetic basis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) was identified in 2019 as a biallelic intronic repeat expansion in the RFC1 gene. The first drug to treat Friedreich ataxia, omaveloxolone, was approved by the US Food and Drug Administration (FDA) in 2023.

Cerebellar ataxias encompass a wide range of diseases. Recognizing ataxia as a symptom is crucial for initiating the diagnostic process. Genetic testing and counseling can be used to identify the type of ataxia and to assess the risk for unaffected family members. Significant progress has been made in understanding cerebellar syndromes, and there is optimism for the development of new therapies.