Kipfer Stefan, Strupp Michael
Department of Neurology Kantonsspital Olten Switzerland.
Department of Neurology and German Center for Vertigo and Balance Disorders University Hospital Munich Munich Germany.
Mov Disord Clin Pract. 2014 Jul 28;1(4):285-290. doi: 10.1002/mdc3.12075. eCollection 2014 Dec.
Autosomal-dominant episodic ataxias (EAs) represent a clinically and genetically heterogeneous group of disorders characterized by recurrent episodes of cerebellar ataxia (CA). Ataxia episodes are usually of short duration and often triggered by specific stimuli. There are currently seven classified subtypes of EA. EA types 1 and 2 have the highest prevalence and are therefore the clinically most relevant. Between attacks, EA 1 is associated with myokymia. In EA 2, often an interictal downbeat nystagmus with other cerebellar ocular dysfunctions is present; patients with EA 2 may display slowly progessive ataxia and vermian atrophy. EA 1 and 2 are both channelopathies, affecting the potassium channel gene, , in EA 1 and the PQ calcium channel-encoding gene, , in EA 2. The types EA 3 to 7 are very rare and have to be further elucidated. Here, we review the historical, clinical, and genetic aspects of autosomal-dominant EAs and their current treatment, focusing on EA 1 and 2.
常染色体显性遗传性发作性共济失调（EA）是一组临床和遗传异质性疾病，其特征为反复出现小脑性共济失调（CA）发作。共济失调发作通常持续时间较短，且常由特定刺激诱发。目前EA有七种分类亚型。EA 1型和2型患病率最高，因此在临床上最为相关。发作间期，EA 1型与肌纤维颤搐有关。在EA 2型中，常出现发作间期下跳性眼球震颤及其他小脑性眼球功能障碍；EA 2型患者可能表现为缓慢进展性共济失调和蚓部萎缩。EA 1型和2型均为离子通道病，分别影响EA 1型中的钾通道基因和EA 2型中编码PQ钙通道的基因。EA 3型至7型非常罕见，有待进一步阐明。在此，我们回顾常染色体显性遗传性EA的历史、临床和遗传方面及其当前治疗方法，重点关注EA 1型和2型。
