EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
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DOI：
10.1111/j.1468-1331.2009.02873.x
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发表时间：
2010-02-01
影响因子：
5.1
通讯作者：
Harbo, H. F.
中科院分区：
文献类型：
--
作者：
Gasser, T.;Finsterer, J.;Harbo, H. F.
背景和目的。这些EFNS神经遗传性疾病的分子诊断指南的目的是为一般神经科医生提供实际帮助，使分子遗传学在诊断神经遗传性疾病。在工作组的专家成员撰写建议之前进行文献检索，并进行详细讨论，直到所有工作组成员达成最终共识。结果和结论本文提供了两个特别复杂的疾病，共济失调和痉挛性截瘫的分子诊断的最新指南。对这些疾病的分子遗传学诊断的可能性和局限性进行了评价，并提出了建议。
Background and purpose. These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders.Methods. Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members.Results and conclusion. This paper provides updated guidelines for molecular diagnosis of two particularly complex groups of disorders, the ataxias and spastic paraplegias. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.