The purpose of this review is to describe the current diagnostic approach to inherited ataxias during childhood. With the expanding use and availability of gene testing technologies including large sequencing panels, the ability to arrive at a precise genetic diagnosis in this group of disorders has been improving. The authors have reviewed all the gene sequencing studies of ataxias available by a comprehensive literature search and summarize their results. A logical algorithm for a diagnostic approach in the context of this evolving information is provided. The authors stress the fact that both autosomal recessive and autosomal dominant mutations can occur in children with ataxias and the need for keeping in mind nucleotide repeat expansions, which cannot be detected by sequencing technologies, as a possible cause of progressive ataxias in children. The traditional phenotype-based diagnostic approach in the context of gene testing technologies is discusses. Finally, this review summarizes those disorders in which a specific therapy may be indicated.

Read the Full article here