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

被引：0

作者：

Shin, Kyong Jin ^{[1
,8
]}

Park, Jinse ^{[1
,8
]}

Oh, Seung Hwan ^{[2
]}

Jun, Kyung Ran ^{[2
]}

Park, Kang Min ^{[1
,8
]}

Ha, Sam Yeol ^{[1
,8
]}

EunKim, Sung ^{[1
,8
]}

Jang, Wooyoung ^{[3
,8
]}

Kim, Ji Sun ^{[4
,8
]}

Youn, Jinyoung ^{[5
,8
]}

Oh, Eungseok ^{[6
,8
]}

Kim, Hee-Tae ^{[7
]}

机构：

[1] Inje Univ, Haeundae Paik Hosp, Dept Neurol, Busan 612030, South Korea

[2] Inje Univ, Haeundae Paik Hosp, Dept Lab Med, Busan 612030, South Korea

[3] Univ Ulsan, Coll Med, Gangneung Asan Hosp, Dept Neurol, Kangnung, South Korea

[4] Soonchunhyang Univ, Coll Med, Dept Neurol, Seoul, South Korea

[5] Sungkyunkwan Univ, Coll Med, Samsung Med Ctr, Dept Neurol, Seoul, South Korea

[6] Chungnam Natl Univ Hosp, Coll Med, Dept Neurol, Daejun, South Korea

[7] Hanyang Univ, Coll Med, Dept Neurol, Seoul 133791, South Korea

[8] KOJYP Study Grp, Seoul, South Korea

来源：

NEUROLOGY ASIA | 2014年 / 19卷 / 04期

基金：

新加坡国家研究基金会;

关键词：

HEMIPLEGIC MIGRAINE;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：363 / 366

页数：4

共 10 条

[1] Familial Hemiplegic Migraine with Prolonged Coma and Cerebellar Atrophy: CACNA1A T666M Mutation in a Korean Family [J].