Zifkin B, Andermann E, Andermann F, Kirkham T
Ann Neurol. 1980 Sep;8(3):329-32. doi: 10.1002/ana.410080319.
A mother and son suffer from hemiplegic migraine with onset in childhood. Both have nystagmus which has not changed for many years, but the date of onset is uncertain. They have an asymmetrical tremor, clinically indistinguishable from essential tremor. Neuroophthalmological examination revealed inability to produce smooth pursuit, gaze-paretic nystagmus, rebound nystagmus, failure of fixation suppression of the vestibuloocular reflex both horizontally and vertically, and low gain of the optokinetic system. These abnormalities, confirmed by electrooculography, are commonly seen in disease of the cerebellum and brainstem. Treatment with propranolol and pizotyline lessened the number of episodes of hemiplegia and improved the tremor. Hemiplegic migraine has been reported in association with nystagmus, retinal degeneration, deafness, and ataxia in varying combinations in three other families with autosomal dominant inheritance. These associated neurological manifestations likely represent system degenerations rather than the effect of repeated ischemia imputable to the migraine itself. The syndrome of hemiplegic migraine, tremor, and ocular smooth pursuit system disorder seen in this family appears to be inherited as a single autosomal dominant trait, although more than one autosomal dominant gene may be involved.
一位母亲和儿子患有儿童期起病的偏瘫性偏头痛。两人都有眼球震颤,多年来未发生变化,但发病日期不确定。他们有不对称性震颤,临床上与特发性震颤无法区分。神经眼科检查发现无法产生平稳跟踪、凝视性眼球震颤、反弹眼球震颤、水平和垂直方向前庭眼反射的注视抑制失败以及视动系统增益降低。这些异常经眼电图证实,常见于小脑和脑干疾病。用普萘洛尔和苯噻啶治疗减少了偏瘫发作次数并改善了震颤。在另外三个具有常染色体显性遗传的家族中,已有报道偏瘫性偏头痛与眼球震颤、视网膜变性、耳聋和共济失调以不同组合相关联。这些相关的神经学表现可能代表系统退化,而非偏头痛本身反复缺血所致的影响。在这个家族中所见的偏瘫性偏头痛、震颤和眼平稳跟踪系统障碍综合征似乎作为单一常染色体显性性状遗传,尽管可能涉及不止一个常染色体显性基因。