A novel mutation of CACNA1A gene in episodic ataxia type 2 family in Korea

Author: Kyong Jin Shin ; Jinse Park ; Seung Hwan Oh ; Kyung Ran Jun ; Kang Min Park ; Sam Yeol Ha ; Sung EunKim ; Wooyoung Jang ; Ji Sun Kim ; Jinyoung Youn ; Eungseok Oh ; Hee-Tae Kim
Publication Type:Journal Article
From:Neurology Asia 2014;19(4):363-366
CountryMalaysia
Language:English
Abstract: Episodic ataxia type 2 (EA-2) is a rare disorder presenting with paroxysmal vertigo and cerebellar dysfunction. EA-2 is known to be caused by mutations of the CACNA1A gene on chromosome 19q13. We examined a family of EA-2 with a novel mutation of the CACNA1A gene showing characteristic ocular symptoms. A-36-year woman visited our hospital with paroxysmal vertigo. When she experienced vertigo attack, she also suffered from gait disturbance, dysarthria, and ataxia. She complained that she could not ride in a car or a train that moved fast, because she could not visually follow the moving objects. Her mother, grandmother, and uncle also complained of similar symptoms. Video nystagmographic findings showed loss of optokinetic nystagmus. We found a novel missense mutation, R279C (c.835C>T), on exon 6 in the CACNAIA gene. This is the first report of a family with new mutation of EA-2 in Korea.
Full text:P020150630593497732440.pdf