Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q.
J Neurol Neurosurg Psychiatry
; 78(11): 1273-5, 2007 Nov.
Article
em En
| MEDLINE
| ID: mdl-17522101
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 (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).
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Base de dados:
MEDLINE
Assunto principal:
Ilusões Ópticas
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Cromossomos Humanos Par 13
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Transtornos da Motilidade Ocular
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Ataxias Espinocerebelares
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Marcha Atáxica
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Ligação Genética
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article