Robbins Matthew S, Lipton Richard B, Laureta Emma C, Grosberg Brian M
The Montefiore Headache Center, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, 1575 Blondell Avenue, Suite 225, Bronx, NY 10461, USA.
Headache. 2009 Jul;49(7):1042-6. doi: 10.1111/j.1526-4610.2009.01464.x. Epub 2009 May 27.
Mutations in the CACNA1A gene on chromosome 19 have been associated with a variety of clinical disorders, including familial hemiplegic migraine type 1 and episodic ataxia type 2 (EA2). We report a patient with 2 distinct attack types, one representing EA2 and the other, basilar-type migraine. Genetic testing revealed a novel nonsense mutation in the CACNA1A gene at codon position 583. Treatment with acetazolamide relieved both types of attacks. We hypothesize that the CACNA1A gene mutation may contribute to both typical EA2 and typical basilar-type migraine, extending the spectrum of clinical manifestations associated with CACNA1A mutations.
19号染色体上的CACNA1A基因突变与多种临床疾病相关，包括1型家族性偏瘫性偏头痛和2型发作性共济失调（EA2）。我们报告了一名具有两种不同发作类型的患者，一种表现为EA2，另一种为基底型偏头痛。基因检测显示CACNA1A基因第583密码子位置存在一个新的无义突变。乙酰唑胺治疗缓解了两种发作类型。我们推测，CACNA1A基因突变可能导致典型的EA2和典型的基底型偏头痛，扩展了与CACNA1A突变相关的临床表现谱。
