Revista de neurologia · 1997
[Clinical identification of hereditary ataxias. A study of 38 cases in Colombia].
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Pedraza O L, Prieto J C, Casasbuenas O L, Espinosa E
Аннотация
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 classification and radiologic criteria. We proposed flow sheet in order to reduce the cost of the studies.
RESULTS: The most frequent findings 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't find dominant inheritance in the late onset ataxias, some of these were recessive forms and the others could be the novo mutations or idiopathic cerebellar ataxias of adult onset.
CONCLUSION: It would be appropriate to enlarge the studies in the metabolic and treatable forms and try to define the forms that have a known genetic mutation.
RESULTS: The most frequent findings 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't find dominant inheritance in the late onset ataxias, some of these were recessive forms and the others could be the novo mutations or idiopathic cerebellar ataxias of adult onset.
CONCLUSION: It would be appropriate to enlarge the studies in the metabolic and treatable forms and try to define the forms that have a known genetic mutation.