Neuhäuser G, Daly R F, Magnelli N C, Barreras R F, Donaldson R M, Opitz J M
Clin Genet. 1976 Jan;9(1):81-91. doi: 10.1111/j.1399-0004.1976.tb01553.x.
The familial occurrence of essential tremor combined with (congenital) nystagmus, duodenal ulceration and a narcolepsy-like sleep disturbance caused by an autosomal dominant gene with high penetrance and fairly uniform expressivity is reported in a family of Swedish-Finnish ancestry. Twelve of 17 affected family members had essential tremor which began between 30-40 years of age and which could be controlled temporarily by alcohol; this resulted in alcoholism in several affected individuals. The most severly affected persons showed cerebellar signs which may reflect a possible pathogenetic relationship of the syndrome to the genetic cerebellar atrophies. Nystagmus, observed in 12 of 17 affected family members (eight of whom were also affected with tremor) usually was congenital and accompanied by refractive errors. Duodenal ulcers occurred almost exclusively in individuals with the neurological syndrome, and preceded its onset in some cases. The ulcer disease therefore seems to be a component manifestation of the syndrome and is interpreted as a pleiotropic effect of the gene which also causes the nystagmus, tremor and sleep disturbance.
据报道，在一个具有瑞典 - 芬兰血统的家族中，常染色体显性基因以高外显率和相当一致的表现度引发了特发性震颤、（先天性）眼球震颤、十二指肠溃疡以及类似发作性睡病的睡眠障碍，这些症状呈家族性出现。17名受影响的家族成员中有12人患有特发性震颤，该震颤始于30至40岁之间，可通过酒精暂时控制，这导致几名受影响个体酗酒。受影响最严重的人表现出小脑体征，这可能反映了该综合征与遗传性小脑萎缩之间可能的致病关系。17名受影响的家族成员中有12人出现眼球震颤（其中8人也患有震颤），眼球震颤通常是先天性的，并伴有屈光不正。十二指肠溃疡几乎仅发生于患有神经综合征的个体中，且在某些情况下先于该综合征出现。因此，溃疡病似乎是该综合征的一种组成表现，被解释为同一基因的多效性效应，该基因还会导致眼球震颤、震颤和睡眠障碍。
