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Episodic Ataxia Type 2 with Downbeating Nystagmus Caused by Mutation in the CACNA1A: A Case Report
Journal of the Korean Neurological Association ; : 399-401, 2005.
Artigo em Coreano | WPRIM | ID: wpr-201274
ABSTRACT
Episodic ataxia type 2 (EA 2) is a rare disorder characterized by intermittent episodes of ataxia with interictal nystagmus. The authors report a patient with EA 2, who presented with recurrent episodes of vertigo, gait ataxia and interictal downbeat nystagmus, which had developed about 16 years before. The chromosomal analysis revealed a translocation between chromosome 7 and chromosome 19 (t(7;19)). The break point in chromosome 19 was the P13 locus of the CACNA1A gene.
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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Ataxia / Cromossomos Humanos Par 7 / Cromossomos Humanos Par 19 / Vertigem / Marcha Atáxica Limite: Humanos Idioma: Coreano Revista: Journal of the Korean Neurological Association Ano de publicação: 2005 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Ataxia / Cromossomos Humanos Par 7 / Cromossomos Humanos Par 19 / Vertigem / Marcha Atáxica Limite: Humanos Idioma: Coreano Revista: Journal of the Korean Neurological Association Ano de publicação: 2005 Tipo de documento: Artigo