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).
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Funding sources: NIH/NIDCD grant P50DC05224, NIH grant 5U54RR019482 and a Clinical Research Training Fellowship grant from the American Academy of Neurology.
Competing interests: None.
- identity by descent
- spinocerebellar ataxia
- single nucleotide polymorphism