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首页> 外文期刊>Archives of Neurology >Genetic testing in spinocerebellar ataxias: defining a clinical role.
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Genetic testing in spinocerebellar ataxias: defining a clinical role.

机译：基因检测在脊髓小脑的共济失调:定义一个临床的作用。

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Although genetic tests for known spinocerebellar ataxia (SCA) genes are increasingly available, their exact clinical role has received much less attention. Currently available DNA tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs. Certain characteristic clinical features and ethnic predilection of some of the SCA subtypes may help prioritize specific SCA gene testing. Available data on genotype-phenotype correlation suggest that currently available DNA tests cannot accurately predict age of onset or prognosis. Because of the mostly adult-onset symptoms and the absence of effective treatment, genetic counseling is essential for addressing ethical, social, legal, and psychological issues associated with SCA DNA testing.
机译：虽然知道脊髓小脑的基因测试共济失调(SCA)越来越多的基因,他们已经收到了更确切的临床作用的关注。定义多达三分之二的基因型患者主要继承了sca。临床特征和民族特征偏爱的一些SCA亚型可能会有所帮助优先考虑特定的SCA基因测试。genotype-phenotype数据相关性建议目前可用的DNA测试不能准确预测发病的年龄或预后。因为主要是成人症状和缺乏有效的治疗、基因咨询是必要的,以解决伦理、社会、法律和心理问题与SCA DNA测试。

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