Otology & Neurotology Group, CTS495, Centro de Genómica e Investigación Oncológica -GENyO Pfizer-Universidad de Granada- Junta de Andalucia, Granada.
Curr Genomics. 2011 Sep;12(6):443-50. doi: 10.2174/138920211797248600.
We present recent advances in the genetics of recurrent vertigo, including familial episodic ataxias, migraneous vertigo, bilateral vestibular hypofunction and Meniere's disease.Although several vestibular disorders are more common within families, the genetics of vestibulopathies is largely not known. Genetic loci and clinical features of familial episodic ataxias have been defined in linkage disequilibrium studies with mutations in neuronal genes KCNA1 and CACNA1A. Migrainous vertigo is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with episodic ataxia and migraine. Bilateral vestibular hypofunction is a heterogeneous clinical group defined by episodes of vertigo leading to progressive loss of vestibular function which also can include migraine. Meniere's disease is a clinical syndrome characterized by spontaneous episodes of recurrent vertigo, sensorineural hearing loss, tinnitus and aural fullness and familial Meniere's disease in around 10-20% of cases. An international collaborative effort to define the clinical phenotype and recruiting patients with migrainous vertigo and Meniere's disease is ongoing for genome-wide association studies.
我们介绍了复发性眩晕的遗传学研究进展，包括家族性发作性共济失调、偏头痛性眩晕、双侧前庭功能低下和梅尼埃病。尽管几种前庭疾病在家族中更为常见，但前庭病变的遗传学很大程度上仍不清楚。通过与神经元基因 KCNA1 和 CACNA1A 突变的连锁不平衡研究，已确定了家族性发作性共济失调的遗传位点和临床特征。偏头痛性眩晕是一种临床疾病，在家族中具有较高的共病性，在女性中更为常见，其具有与发作性共济失调和偏头痛重叠的特征。双侧前庭功能低下是一种异质性临床群体，以眩晕发作为特征，导致前庭功能逐渐丧失，也可包括偏头痛。梅尼埃病是一种临床综合征，其特征为自发性复发性眩晕、感音神经性听力损失、耳鸣和耳闷，约 10-20%的病例为家族性梅尼埃病。一项国际合作努力正在进行中，旨在定义偏头痛性眩晕和梅尼埃病的临床表型，并招募患者进行全基因组关联研究。
