Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family.
- Author:
Jeong Min KIM
1
;
Ji Soo KIM
;
Chang Seok KI
;
Beom Seok JEON
Author Information
- Publication Type:Case Report
- Keywords: Episodic ataxia type 2; CACNA1A; Korea
- MeSH: Ataxia*; Calcium Channels; Exons; Humans; Introns; Korea; Sequence Deletion*; Vertigo
- From:Journal of Clinical Neurology 2006;2(4):268-271
- CountryRepublic of Korea
- Language:English
- Abstract: Episodic ataxia type 2 (EA-2) is an inherited disorder that is characterized by intermittent vertigo, ataxia, and interictal gaze-evoked nystagmus. Although abnormalities associated with this disorder have been found in the CACNA1A gene encoding the alpha1A (Cav2.1) subunit of the P/Q-type calcium channel, there are few reports of genetically confirmed EA-2 in Korea. In 1998, a Korean family with acetazolamide-responsive hereditary paroxysmal ataxia was reported, but the genetic background was not defined at that time. In the present study we performed direct sequencing of the entire exons and their flanking intronic sequences of the CACNA1A gene and found a deletion mutation (c.2042_2043delAG).
