Autosomal recessive cerebellar ataxia: What have we learnt in the last 30 years?

Knowledge in the field of autosomal-recessive cerebellar ataxia (ARCA) has considerably improved since the discovery of the Friedreich ataxia gene in 1996. Numerous entities have been described in which cerebellar ataxia may be the first sign or appear during the course of the disease. Even though new sequencing tools have made genetic diagnosis much easier, management of patients with ARCA requires careful phenotypic analysis in order to propose the most effective genetic studies, rapidly track down treatable ARCA, and discuss the pathogenicity of new WGS-identified missense variants.