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Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q
  1. Y H Cha1,
  2. H Lee2,
  3. J C Jen1,
  4. J C Kattah3,
  5. S F Nelson2,
  6. R W Baloh1
  1. 1
    Department of Neurology, University of California Los Angeles, California, USA
  2. 2
    Department of Human Genetics, University of California Los Angeles, California, USA
  3. 3
    Peoria Department of Neurology, University of Illinois, Illinois, USA
  1. Dr Yoon-Hee Cha, Department of Neurology, University of California Los Angeles, 710 Westwood Plaza Box 951769, Los Angeles, CA. 90095, USA; yhcha{at}mednet.ucla.edu

Abstract

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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Footnotes

  • 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.

  • Abbreviations:
    IBD
    identity by descent
    SCA
    spinocerebellar ataxia
    SNP
    single nucleotide polymorphism

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