先天性遗传性蛛网膜囊肿引发对橄榄体脑桥小脑萎缩的临床研究

目的初步探讨橄榄体脑桥小脑萎缩（olivopontocerebellar atrophy，OPCA）的显微解剖结构、病因和发病机制。方法对近5年北京天坛医院神经外科28例OPCA的患者作临床、分子遗传学及影像学特征研究。结果OPCA是主要累及小脑、脑干和脊髓的进行性神经变性病。结论OPCA有遗传和散发两类，临床有多种类型和变异型。对OPCA所采用的基因诊断可以直接在DNA水平上鉴定突变基因。SCA1、SCA2、SCA7的CAG可作为基因诊断的标志。在临床上凡有小脑性共济失调，特别是以此为首发症状者，均应首选做MR检查，这对OPCA的诊断及鉴别诊断具有重要意义。

1 case of congenital transmissible intracranial arachnoid cysts arouse to make a study of olivopontocerebellar atrophy

Objective To investigate preliminarily the structure of microanatomy, pathogeny and pathogenesis of olivopontocerebellar atrophy. Methods To study the clinical, molecular genetics and characteristic of image of 28 olivopontocerebellar atrophy in the latest 5 years in The Department of Neurosergery of Beijing TianTan hospital. Results Olivopontocerebellar atrophy is the nerval denatured disease about cerebel, brainstem and spinal cord. Condusions Olivopontocerebellar atrophy include genotype and emanate type. It include manifold types and variance types, in medicine clinical . OPCA apply genetic diagnosis may identify mutation gene. at the leval of gene directly. CAG of SCA1 SCA2 SCA7 may as the symbol of the genetic diagonosis All the ataxia of cerebellum, especially as the first sympotom like this, all should do the Mill examinanation at first. , this is the important significance to the diagnosis and differentiate diagnosis of OPCA.