Episodic Ataxia Type 2 with Downbeating Nystagmus Caused by Mutation in the CACNA1A: A Case Report.
- Author:
Sook YUN
1
;
Yoon Jeong CHANG
;
Sung Chul JUNG
;
Jun Woo KWON
;
Geun Ho LEE
;
Chang Min LEE
;
Young Mok SONG
;
Jae Il KIM
Author Information
1. Department of Neurology, Dankook University College of Medicine, Cheonan, Korea. taejung@dku.edu
- Publication Type:Case Report
- Keywords:
Episodic ataxia;
Downbeat nystagmus;
Translocation
- MeSH:
Ataxia*;
Chromosomes, Human, Pair 19;
Chromosomes, Human, Pair 7;
Gait Ataxia;
Humans;
Vertigo
- From:Journal of the Korean Neurological Association
2005;23(3):399-401
- CountryRepublic of Korea
- Language:Korean
-
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.
