Furman J M, Baloh R W, Chugani H, Waluch V, Bradley W G
Ann Neurol. 1985 Apr;17(4):399-402. doi: 10.1002/ana.410170417.
We describe a family whose members have a dominantly inherited, early-onset, nonprogressive syndrome that includes spontaneous upbeating nystagmus and mild gait ataxia. Magnetic resonance imaging showed localized atrophy of the cerebellar vermis. Several families described in the literature resemble our family but differ in mode of inheritance, age at onset, rate of progression, or clinical findings. We believe this family represents a unique type of inherited early-onset atrophy of the cerebellar vermis.
我们描述了一个家族，其成员患有一种显性遗传的早发性、非进行性综合征，包括自发性上跳性眼球震颤和轻度步态共济失调。磁共振成像显示小脑蚓部局限性萎缩。文献中描述的几个家族与我们的家族相似，但在遗传方式、发病年龄、进展速度或临床发现方面有所不同。我们认为这个家族代表了一种独特类型的遗传性早发性小脑蚓部萎缩。
