Identification clinica de las ataxias hereditarias: Estudio de 38 casos en Colombia

Introduction. Hereditary ataxias are a complex group of degeneratives diseases of the CNS. Material and methods. We studied 38 patients who were diagnosed inherited ataxia according to recent classiflcation and radiologie criteria. We proposed flow sheet in order to reduce the cost of the studies. Results. The most frequent flndings we encountered were the congenital ataxias and the late onset ataxia forms, olivopontocerebellar ataxias (OPCA) and the late cortical cerebellar ataxias (CCA), following were the Friedreich ataxias, the intermittent ataxias, and cerebellar ataxias with myoclonus. We found finally two multisystemic atrophies. We didn 'tflnd dominant inheritance in the late onset ataxias, some of these were recessiveforms andtheothers could'be the novo mutations or idiopatic cerebellar ataxias ojadult onset. Conclusions. // would be appropriate to enlarge the studies in the metabolic and treatable forms and try to define the forms that have a blown genetic mutation.