Gordon N
Brain Dev. 1998 Jan;20(1):9-13. doi: 10.1016/s0387-7604(97)00086-7.
Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with interictal nystagmus, and attacks which last for several hours to a day or more, and treatment with acetazolamide is very effective; paroxysmal choreoathetosis with episodic ataxia, with attacks lasting for about 20 min and occurring at varying intervals; and familial hemiplegic migraine, with transient hemiplegia presenting during the aura of a migraine headache, the symptoms improving on treatment with acetazolamide. Their inheritance is of dominant type; and the gene for type 1 is mapped to chromosome 12p near to a cluster of potassium channel genes, and that for type 2 and for familial hemiplegic migraine to chromosome 19p near to calcium channel genes. The differential diagnosis from other conditions with a periodic symptomatology is discussed, especially from a number of metabolic disorders. Treatment is effective for many of these, and the treatment of the episodic ataxias with acetazolamide can sometimes have a dramatic effect. The possible role of the channelopathies in the causation of some periodic neurological disorders is considered; with the expectation that further research will improve the identification of specific diseases, and lead to more effective treatment.
1型伴有肌纤维颤搐，发作通常持续几分钟，一天可能发作数次，乙酰唑胺治疗可减少发作次数；2型伴有发作间期眼球震颤，发作持续数小时至一天或更长时间，乙酰唑胺治疗非常有效；阵发性舞蹈手足徐动症伴发作性共济失调，发作持续约20分钟，发作间隔不等；以及家族性偏瘫性偏头痛，在偏头痛先兆期间出现短暂偏瘫，乙酰唑胺治疗后症状改善。它们的遗传方式为显性遗传；1型的基因定位于12号染色体短臂靠近一组钾通道基因的位置，2型和家族性偏瘫性偏头痛的基因定位于19号染色体短臂靠近钙通道基因的位置。文中讨论了与其他具有周期性症状的疾病的鉴别诊断，尤其是与一些代谢紊乱疾病的鉴别。许多这类疾病的治疗是有效的，用乙酰唑胺治疗发作性共济失调有时会有显著效果。文中考虑了通道病在某些周期性神经系统疾病病因中的可能作用；期望进一步的研究将改善对特定疾病的识别，并带来更有效的治疗方法。
