Primary episodic ataxias: diagnosis, pathogenesis and treatment
Primary episodic ataxias: diagnosis, pathogenesis and treatment
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DOI：
10.1093/brain/awm126
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发表时间：
2007-10-01
期刊：
影响因子：
14.5
通讯作者：
Baloh, R. W.
中科院分区：
文献类型：
--
作者：
Jen, J. C.;Graves, T. D.;Baloh, R. W.
原发性发作性共济失调是常染色体显性通道病，表现为不平衡和不协调的发作。两个基因KCNAI和CACNAIA的突变引起最具特征的发作性共济失调病例，并占大多数。我们总结了发作性共济失调综合征的临床和遗传诊断、基因型-表型相关性、病理生理学和治疗的当前知识。我们专注于尚未解决的问题，包括表型和遗传异质性，从动物模型和技术进步的经验教训，各种治疗策略的合理性和可行性，以及共同的机制，潜在的发作性共济失调和其他更普遍的阵发性疾病，如癫痫和偏头痛。
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNAI and CACNAIA, 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.