Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q.

Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q. Research Abstract Details 

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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. Abstract Text:

Y H Cha,H Lee,J C Jen,J C Kattah,S F Nelson,R W Baloh,

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).

Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q. Publishing Authors By Initials

YH Cha,H Lee,JC Jen,JC Kattah,SF Nelson,RW Baloh,

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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. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Journal of neurology, neurosurgery, and psychiatry

VOLUME: 78

Page Numbers: 1273-5

Journal Abbreviation: J. Neurol. Neurosurg. Psychiat

ISSN: 1468-330X

DAY: 23

MONTH: 05

YEAR: 2007

Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q. Information

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LANGUAGE: eng

NlmUniqueID: 2985191

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AFFILIATION: Department of Neurology, University of California Los Angeles, 710 Westwood Plaza Box 951769, Los Angeles, CA 90095, USA. yhcha@mednet.ucla.edu

Country: England

AGENCY: United States NIDCD

GRANT: P50DC05224

ACRONYM: DC

MEDLINETA: J Neurol Neurosurg Psychiatry

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