Goldfarb L G, Chumakov M P, Petrov P A, Fedorova N I, Gajdusek D C
National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892.
Neurology. 1989 Nov;39(11):1527-30. doi: 10.1212/wnl.39.11.1527.
One-hundred cases of olivopontocerebellar atrophy, type 1, were found and studied in the Iakut population of Eastern Siberia. The disease followed a slowly progressive course of cerebellar insufficiency caused by degeneration in the cerebellar cortex, nuclei pontis, and inferior oliva. The disorder shows an autosomal dominant pattern of inheritance with a lower penetrance in females. The disease spread from a small region in the Aldan valley 200 to 300 years ago.
在东西伯利亚的雅库特人群中发现并研究了100例1型橄榄体脑桥小脑萎缩病例。该疾病呈缓慢进展的小脑功能不全病程，由小脑皮质、脑桥核和下橄榄体的变性引起。这种疾病表现为常染色体显性遗传模式，女性的外显率较低。该疾病于200至300年前从阿尔丹山谷的一个小区域传播开来。
