Jen Joanna C, Baloh Robert W
UCLA Neurology, Los Angeles, California, USA.
Ann N Y Acad Sci. 2009 May;1164:252-6. doi: 10.1111/j.1749-6632.2008.03723.x.
Familial episodic ataxias are inherited channelopathies that manifest as episodes of vertigo and ataxia triggered by emotional stress and physical exertion. Mutations in two neuronal ion-channel genes KCNA1 and CACNA1A abundantly expressed in the cerebellum account for the majority of the identified cases of episodic ataxia. Overlapping features between episodic ataxia and the more common recurrent vertigo and ataxia syndromes, particularly those associated with migraine, suggest shared underlying mechanisms. Altered neuronal excitability in the brain and inner ear could contribute to the central and peripheral features of migrainous vertigo. Given the familial aggregation of migraine and migrainous vertigo, our objective was to identify predisposing genetic factors. Preliminary findings demonstrate that migrainous vertigo is genetically heterogeneous and complex. Efforts are ongoing to perform genomewide association studies to identify risk alleles for migrainous vertigo, which may also be relevant to migraine in general.
家族性发作性共济失调是遗传性离子通道病，表现为由情绪应激和体力活动引发的眩晕和共济失调发作。在小脑中大量表达的两个神经元离子通道基因KCNA1和CACNA1A的突变，是已确诊的大多数发作性共济失调病例的病因。发作性共济失调与更常见的复发性眩晕和共济失调综合征（特别是那些与偏头痛相关的综合征）之间的重叠特征，提示存在共同的潜在机制。大脑和内耳中神经元兴奋性的改变，可能导致偏头痛性眩晕的中枢和外周特征。鉴于偏头痛和偏头痛性眩晕的家族聚集性，我们的目标是确定易感基因因素。初步研究结果表明，偏头痛性眩晕在遗传上具有异质性且较为复杂。目前正在努力进行全基因组关联研究，以确定偏头痛性眩晕的风险等位基因，这可能也与一般偏头痛有关。
