Ataxias in Brazil

Tsuji discusses ataxia in Brazil. Ataxia is a neurological manifestation characterized by the loss of truncal balance and incoordination of limbs. Among various neurological diseases presenting with ataxia as the main symptom, neurodegenerative diseases comprise the majority, which are usually classified as sporadic and hereditary ataxias from the viewpoint of genetics. Massuyama et al conducted a large-scale cross-sectional analysis of 1,332 patients with various forms of ataxias evaluated over 17 years at a single ataxia center, the Ataxia Unit at the Hospital Sao Paulo, in Sao Paulo, Brazil. In the field of molecular genetics, investigations focusing on dynamic aspects of the human genome, including expanded tandem repeats, imprinting, de novo mutations, mosaicisms, and epigenetic changes, should be explored. The development of highly effective therapies based on the elucidated disease mechanisms is the ultimate goal of these molecular genetics research studies.