Galosi S, Barca E, Carrozzo R, et al. - Researchers evaluated the clinical presentation and evolution in 47 reported cases of cerebellar ataxia in order to better describe the phenotypic spectrum and course of COQ8A disease. Onset is typically during infancy or childhood with ataxic features linked to developmental delay or regression. According to findings, the combination of writing difficulty, dystonia and ataxia is a distinctive constellation reminiscent of a previously described clinical entity called Dystonia Ataxia Syndrome and is an important clinical indicator of COQ8A mutations, even when ataxia is mild or absent.