南方医科大学学报2016，Vol.36Issue(7)：883-886,4.DOI:10.3969/j.issn.1673-4254.2016.07.01
CACNA1A基因的错义突变R1345Q导致一种新的共济失调伴随发作性全身震颤：临床特征、基因诊断及治疗的家系分析
Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor：clinical features, genetic analysis and treatment in a familial case
摘要
Abstract
Objective Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine type-1 (FHM1), and spinocerebellar ataxia type-6 (SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members. Methods Physical examinations were conducted for the patient and his affected family members. DNA sample from the proband was analyzed with next-generation sequencing technology to identify the causative mutation. Sanger sequencing was used to confirm the gene mutation in the family members. Results Physical examinations of the patient revealed signs of ataxia, drunken gait, and tremor of his head and body. Four other members in his family had similar but much milder symptoms. A heterozygous missense mutation in CACNA1A (NM_001127221.1 c.4034G->A, p.R1345Q, exon 25) was identified in the proband, which was confirmed in the affected family members. The proband did not respond to methazolamide treatment, but his tremor symptom was well controlled with flunarizine, a calcium channel blocker. Conclusion Based on the clinical features, mutation analysis and treatment response, we suggest that this patient with a missense CACNA1A mutation, R1345Q, has a new type of ataxia with episodic tremor other than any of EA2, FHM1, or SCA 6.关键词
共济失调/CACNA1A/钙离子通道/西比灵/震颤Key words
ataxia/CACNA1A/calcium channel blocker/flunarizine/tremor引用本文复制引用
蒋海山,王冬梅,王群,杨曼,王伟,潘速跃,胡亚芳..CACNA1A基因的错义突变R1345Q导致一种新的共济失调伴随发作性全身震颤：临床特征、基因诊断及治疗的家系分析[J].南方医科大学学报,2016,36(7):883-886,4.基金项目
Supported by Guangdong Provincial Universities Fund (C1031243) and Nanfang Hospital Fund for Experts Recruitment Program (17983) （C1031243）
