Jen J C, Graves T D, Hess E J, Hanna M G, Griggs R C, Baloh R W
Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA.
Brain. 2007 Oct;130(Pt 10):2484-93. doi: 10.1093/brain/awm126. Epub 2007 Jun 15.
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the best characterized and account for the majority of identified cases of episodic ataxia. We summarize current knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, pathophysiology and treatment of episodic ataxia syndromes. We focus on unresolved issues including phenotypic and genetic heterogeneity, lessons from animal models and technological advancement, rationale and feasibility of various treatment strategies, and shared mechanisms underlying episodic ataxia and other far more prevalent paroxysmal conditions such as epilepsy and migraine.
原发性发作性共济失调是常染色体显性通道病，表现为失衡和共济失调发作。KCNA1和CACNA1A这两个基因的突变导致了特征最明显的发作性共济失调，且占已确诊发作性共济失调病例的大多数。我们总结了目前关于发作性共济失调综合征的临床和基因诊断、基因型-表型相关性、病理生理学及治疗的知识。我们关注尚未解决的问题，包括表型和基因异质性、动物模型和技术进步的经验教训、各种治疗策略的原理和可行性，以及发作性共济失调与其他更常见的发作性疾病（如癫痫和偏头痛）潜在的共同机制。
