Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
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DOI：
10.1002/ana.410390115
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发表时间：
1996-01-01
影响因子：
11.2
通讯作者：
May, EF
中科院分区：
文献类型：
--
作者：
Elliott, MA;Peroutka, SJ;May, EF
家族性偏瘫性偏头痛是一种常染色体显性遗传病，其特征是在偏头痛发作的先兆期出现短暂性偏瘫。在患有这种疾病的个体中已经报道了眼球震颤，但是眼球运动发现的起源尚不清楚。一个三代家庭FHM的描述和临床病史概述。对7名家族成员进行了眼动力学评价，其中5名有偏瘫性偏头痛病史，2名无偏头痛病史。所有受影响的家庭成员有异常的眼球运动与前庭小脑功能障碍一致。受影响的家庭成员的磁共振成像结痂显示小脑蚓部萎缩。DNA连锁分析揭示了19号染色体上所有受影响家庭成员的共同标记。我们认为偏瘫性偏头痛发作和小脑变性有遗传联系，眼球运动不是复发性偏头痛的缺血性后遗症。在FHM和遗传相关疾病遗传性阵发性小脑共济失调（HPCA）中报告了惊人相似的眼球运动结果和小脑变性。这些相似性的意义进行了讨论沿着提出的病理生理功能性血友病。
Familial hemiplegic migraine (FHM) is an autosomal dominant disorder characterized by transient hemiplegia during the aura phase of a migraine attack. Nystagmus has been reported in individuals affected with this disorder, but the origin of the ocular motility findings is unknown. A three-generation family with FHM is described and clinical histories are outlined. Ocular motility evaluations were performed on 7 family members, 5 with a history of hemiplegic migraine and 2 without history of migraine. All affected family members had abnormal eye movements consistent with vestibulocerebellar dysfunction. Magnetic resonance imaging scabs in affected family members revealed cerebellar vermian atrophy. DNA linkage analysis revealed a common marker in all the affected family members on chromosome 19. We suggest that the hemiplegic migraine attacks and the cerebellar degeneration are linked genetically and that the eye movements are not the ischemic sequelae of recurrent migraine. Strikingly similar ocular motility findings and cerebellar degeneration are reported in both FHM and a genetically related disorder, hereditary paroxysmal cerebellar ataxia (HPCA). The significance of these similarities is discussed along with a proposed pathophysiology for FHM.