PT  - JOURNAL ARTICLE
AU  - Y H Cha
AU  - H Lee
AU  - J C Jen
AU  - J C Kattah
AU  - S F Nelson
AU  - R W Baloh
TI  - Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q
AID  - 10.1136/jnnp.2006.111138
DP  - 2007 Nov 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 1273--1275
VI  - 78
IP  - 11
4099  - http://jnnp.bmj.com/content/78/11/1273.short
4100  - http://jnnp.bmj.com/content/78/11/1273.full
SO  - J Neurol Neurosurg Psychiatry2007 Nov 01; 78
AB  - 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 (∼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).