J Korean Neurol Assoc.
2005 Jun;23(3):399-401.
Episodic Ataxia Type 2 with Downbeating Nystagmus Caused by Mutation in the CACNA1A: A Case Report
- Affiliations
-
- 1Department of Neurology, Dankook University College of Medicine, Cheonan, Korea. taejung@dku.edu
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.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family
- Migrainous Vertigo
- Spinocerebellar Ataxia Type 6 and Episodic Ataxia Type 2 in a Korean Family
- New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia
- Episodic Ataxias: Clinical and Genetic Features
