Jen Joanna C
Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095-1769, USA.
Ann N Y Acad Sci. 2008 Oct;1142:250-3. doi: 10.1196/annals.1444.016.
Hereditary episodic ataxia (EA) syndromes are rare monogenic disorders that are phenotypically and genetically heterogeneous. The number of identified EA phenotypes is expanding. So far, mutations have been identified in four genes, all coding for membrane proteins including ion channels and transporters. The study of EA has illuminated previously unrecognized but important roles of ion channels and transporters in cerebellar function. This review summarizes recent advances and focuses on practical approaches in the diagnosis and treatment of episodic ataxia.
遗传性发作性共济失调（EA）综合征是罕见的单基因疾病，在表型和遗传上具有异质性。已确定的EA表型数量正在增加。到目前为止，已在四个基因中鉴定出突变，所有这些基因都编码膜蛋白，包括离子通道和转运蛋白。对EA的研究揭示了离子通道和转运蛋白在小脑功能中以前未被认识但很重要的作用。这篇综述总结了最近的进展，并重点关注发作性共济失调诊断和治疗的实用方法。
