Yuan Xiaoqiu, Zheng Yiming, Gao Feng, Sun Wei, Wang Zhaoxia, Zhao Guiping
Department of Neurology, Peking University First Hospital, Beijing, China.
Front Neurol. 2022 May 23;13:899813. doi: 10.3389/fneur.2022.899813. eCollection 2022.
Episodic ataxia type 2 (EA2) is one autosomal-dominant neurological disorder characterized by debilitating attacks of ataxia. It is mainly caused by loss-of-function mutations of the CACNA1A gene, which encodes the pore-forming α1A subunit of Ca2.1 (P/Q type voltage-gated calcium channel). Sporadic hemiplegic migraine (SHM) is another rare disease involving CACNA1A variants, which seldom coexists with EA2. Here we report a novel pathogenic mutation in CACNA1A (c.3836dupA, exon 23, p.Y1279X) of a 16-year-old female, who complained about paroxysmal dizziness, headache, and unsteady gait. Her brain MRI revealed a slightly atrophic cerebellum and numerous asymptomatic hyperintense lesions of the cerebral white matter. The diagnosis of EA2 combined with SHM was made. Administration of 5-mg flunarizine once daily at night effectively reduced the attacks and attenuated her symptoms for a month.
发作性共济失调2型（EA2）是一种常染色体显性神经系统疾病，其特征为使人衰弱的共济失调发作。它主要由CACNA1A基因突变导致功能丧失引起，该基因编码Ca2.1（P/Q型电压门控钙通道）的孔形成α1A亚基。散发性偏瘫性偏头痛（SHM）是另一种涉及CACNA1A变异的罕见疾病，很少与EA2共存。在此，我们报告一名16岁女性CACNA1A基因（第23外显子c.3836dupA，p.Y1279X）的一种新的致病突变，该女性主诉阵发性头晕、头痛和步态不稳。她的脑部磁共振成像显示小脑轻度萎缩以及脑白质多处无症状高信号病变。作出了EA2合并SHM的诊断。每晚一次服用5毫克氟桂利嗪有效减少了发作次数，并使她的症状缓解了一个月。
