Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients

Abstract

Autosomal recessive cerebellar ataxias (ARCAs) comprisecomplex genetic ataxia disorders with variable central andperipheral nervous system involvement and systemic changes.They can overlap with other conditions such as hereditary spas-tic paraplegia, inborn errors of metabolism, and genetic enceph-alopathies.1While usually starting in childhood or youngadulthood, late adult-onset may occur. The advanced applica-tion of next-generation sequencing has allowed the moleculardefinition of many previously undetermined ARCAs in the lastdecade, including many new ARCA genes.