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.
Artículo
en 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ataxia
/
Cromosomas Humanos Par 7
/
Cromosomas Humanos Par 19
/
Vértigo
/
Ataxia de la Marcha
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2005
Tipo del documento:
Artículo
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