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[遗传性共济失调的临床鉴定。对哥伦比亚38例病例的研究]

[Clinical identification of hereditary ataxias. A study of 38 cases in Colombia].

作者信息

Pedraza O L, Prieto J C, Casasbuenas O L, Espinosa E

机构信息

Servicios de Neurología y Genética, Hospital de Kennedy, Santafé de Bogatá, Colombia.

出版信息

Rev Neurol. 1997 Jul;25(143):1016-22.

PMID:9280625
Abstract

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.

摘要

引言

遗传性共济失调是中枢神经系统一组复杂的退行性疾病。材料与方法。我们研究了38例根据最新分类和放射学标准被诊断为遗传性共济失调的患者。我们提出了流程图以降低研究成本。

结果

我们遇到的最常见的情况是先天性共济失调和迟发性共济失调形式,橄榄脑桥小脑萎缩(OPCA)和迟发性皮质小脑共济失调(CCA),其次是弗里德赖希共济失调、发作性共济失调以及伴有肌阵挛的小脑共济失调。我们最终发现了两例多系统萎缩。我们在迟发性共济失调中未发现显性遗传,其中一些是隐性形式,其他可能是新发突变或成人起病的特发性小脑共济失调。

结论

扩大对代谢性和可治疗形式的研究,并尝试确定具有已知基因突变的形式是合适的。

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