Cha Y H, Lee H, Jen J C, Kattah J C, Nelson S F, Baloh R W
Department of Neurology, University of California Los Angeles, 710 Westwood Plaza Box 951769, Los Angeles, CA 90095, USA.
J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1273-5. doi: 10.1136/jnnp.2006.111138. Epub 2007 May 23.
We describe four families with late onset episodic vertical oscillopsia and progressive gait ataxia. Probands presented between the ages of 40 and 64 years with initial symptoms of episodic vertical oscillopsia and interictal downbeat nystagmus. A mild gait ataxia developed over several years. Triggers included physical exertion, alcohol and caffeine. Patients did not respond to acetazolamide. Genetic screening for episodic ataxia types 1 and 2, and spinocerebellar ataxias 1, 2, 3 and 6 were negative. Using ancestral identity by descent analysis and dense single nucleotide polymorphism (SNP) genotyping throughout the genome, an interval of 28.6 cM (approximately 14.2 Mb) on chromosome 13q12.11-q13.3, composed of 1259 SNPs, was shared between affected individuals in two of the four families and highlighted a region of suggestive linkage (LOD >2.7).
我们描述了四个患有迟发性发作性垂直性视振荡和进行性步态共济失调的家系。先证者发病年龄在40至64岁之间，最初症状为发作性垂直性视振荡和发作间期下跳性眼球震颤。数年内逐渐出现轻度步态共济失调。诱发因素包括体力活动、酒精和咖啡因。患者对乙酰唑胺无反应。对发作性共济失调1型和2型以及脊髓小脑共济失调1型、2型、3型和6型进行基因筛查均为阴性。通过全基因组的系谱同一性分析和密集单核苷酸多态性（SNP）基因分型，在四个家系中的两个家系的患病个体之间，在13号染色体q12.11 - q13.3区域共享了一个由1259个SNP组成、长度为28.6厘摩（约14.2兆碱基）的区间，突出显示了一个提示性连锁区域（LOD>2.7）。
