本文關(guān)鍵詞： 共濟(jì)失調(diào) CACNAA 鈣離子通道 西比靈 震顫　出處：《南方醫(yī)科大學(xué)學(xué)報(bào)》2016年07期 　論文類型：期刊論文

【摘要】：目的 CACNA1A基因編碼P/Q型鈣離子通道的亞單位,它的突變至少造成3種等位基因病:發(fā)作性共濟(jì)失調(diào)2型(EA-2)、家族性偏癱性偏頭痛1型(FHM1)和小腦脊髓共濟(jì)失調(diào)6型(SCA 6)。本研究對(duì)一例19歲男性的發(fā)作性全身震顫患者的臨床表現(xiàn)、基因分析結(jié)果和治療效果進(jìn)行研究。方法對(duì)病人及家系中有類似癥狀的成員進(jìn)行專科查體;對(duì)先證者的DNA進(jìn)行下一代測(cè)序分析以尋找致病基因,并用Sanger測(cè)序方法對(duì)家系成員進(jìn)行基因變異的驗(yàn)證。結(jié)果神經(jīng)專科查體顯示患者共濟(jì)失調(diào)體征,醉酒步態(tài),頭和軀干震顫。家系中另4個(gè)成員的癥狀和體征較輕�；驒z測(cè)發(fā)現(xiàn)先證者攜帶有CACNA1A基因的雜合錯(cuò)義突變(NM_001127221.1 c.4034G-A,p.R1345Q,exon 25),為致病突變。家系中4個(gè)患病成員中也攜帶同樣雜合突變。病人經(jīng)醋甲唑胺治療后效果不佳,但鈣離子通道阻斷劑西比靈治療效果良好。結(jié)論根據(jù)患者的臨床表現(xiàn)、基因突變類型和治療效果,我們認(rèn)為患者CACNA1A基因突變R1345Q所引起的疾病不屬于EA2,FHM1,或SCA 6任何一種,而是一種新的伴有發(fā)作性震顫共濟(jì)失調(diào)。
[Abstract]:Objective the CACNA1A gene encodes a subunit of P / Q type calcium channel, whose mutation causes at least three alleles: paroxysmal ataxia type 2 (AB-2). Familial hemiplegic migraine type 1 (FHM1) and cerebellar spinal cord ataxia type 6 (SCA6). This study was conducted in a 19-year-old male with paroxysmal systemic tremor. The results of gene analysis and therapeutic effect were studied. The DNA of the proband was sequenced in the next generation to search for the pathogenic gene. The genetic variation of family members was verified by Sanger sequencing. Results Neurophysical examination showed ataxia signs and drunken gait. Tremor of the head and trunk. Symptoms and signs of the other four members of the family were mild. Gene tests revealed that the proband carried a heterozygous missense mutation of the CACNA1A gene (. NM_001127221.1 c.4034G-A. P. R1345QFexon 25, which was a pathogenic mutation. The same heterozygous mutation was also carried in the 4 members of the family. The effect was not good after the treatment of oxazolamine. But the calcium channel blocker sibelium is effective. Conclusion according to the clinical manifestation, gene mutation type and therapeutic effect of calcium channel blocker. We believe that the disease caused by CACNA1A gene mutation R1345Q does not belong to EA2FHM1 or SCA 6, but is a new type of ataxia with paroxysmal tremor.
【作者單位】： 南方醫(yī)科大學(xué)南方醫(yī)院神經(jīng)內(nèi)科;
【基金】：Supported by Guangdong Provincial Universities Fund(C1031243) Nanfang Hospital Fund for Experts Recruitment Program(17983)~~
【分類號(hào)】：R744.7
【正文快照】： INTRODUCTIONMutations in CACNA1A cause at least 3 allelic diseases,namely type 2 episodic ataxia(EA2,OMIM#108500),familial hemiplegic migraine type 1(FHM1,OMIM#141500)[1,2],and spinocerebellar ataxia type 6(SCA6,OMIM#183086)[3].The CACNA1A gene encodes t

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