PRRT2基因相关的发作性运动诱发运动障碍病例1例报告
摘要
<正>发作性运动障碍(paroxysmal dyskinesia,PxD s)病如其名,为一组由运动或非运动诱因所诱发的刻板样反复发作的运动障碍疾病。2004年BrunoM K~([1])等在Nuerology上发表了PxD s的诊断标准,将发作性运动障碍按照临床特点被分为4型。包括:(1)发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD);(2)发作性非运动诱发性运动障碍(paroxysmal nonkinesigenic dyskinesia,PNKD);(3)过度运动源性运动障碍(paroxysmal exercise-induced dyskinesia,PED);
引文
[1]Bruno MK,Hallett M,Gwinn-Hardy K,et al.Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia:new diagnostic criteria[J].Neurology,2004,63(12):2280-2287.
[2]Mount LA,Reback S.Familial paroxysmal choreoathetosis:preliminary report on a hitherto undescribed clinical syndrome[J].Arch Neurol Psychiatry,1940,44:841-847.
[3]Demirkiran M,Jankovic J.Paroxysmal dyskinesias:clinical features and classification[J].Ann Neurol,1995,38(4):571-579.
[4]Lugaresi E,Cirignotta F.Hypnogenic paroxysmal dystonia:epileptic seizure or a new syndrome[J].Sleep,1981,4(2):129-138.
[5]Tinuper P,Cerullo A,Cirignotta F,et al.Nocturnal paroxysmal dystonia with short-lasting attacks:three cases with evidence for an epileptic frontal lobe origin of seizures[J].Epilepsia,1990,31(5):549-556.
[6]Bruno MK,Lee HY,Auburger GWJ,et al.Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia[J].Neurology,2007,68(21):1782-1789.
[7]Meneret A,Gaudebout C,Riant F,et al.PRRT2 mutation and Paroxysmal disorders[J].Eur J Neurol,2013,20(6):872-878.
[8]Rossi P,Sterlini B,Castrolforio E,et al.A Novel topology of prolinerich tranmembrane protein 2(PRRT2):Hints for an intrancellular funvtion at the synase[J].J Biol Hem,2016,291(12):6111-6123.
[9]Guerrini R,Mink JW.Paroxysmal disorders associated with PRRT2mutations shake up expectations on ion channel genes[J].Neurology,2012,79(21):2086-2098.
[10]Gardiner AR,Jaffer F,Dale RC,et al.The clinical and genetic heterogeneity of paroxysmal dyskinesias[J].Brain,2015,138:3567-3580.
[11]Wood H.Genetics:expanding the spectrum of neurological disorders associated with PRRT2 mutations[J].Nat Rev Neurol,2012,8(12):657-657
[12]Wang JL,Cao L,LI XH,et al.Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesia[J].Brain,2011,134(12):3491-3501.
[2]Mount LA,Reback S.Familial paroxysmal choreoathetosis:preliminary report on a hitherto undescribed clinical syndrome[J].Arch Neurol Psychiatry,1940,44:841-847.
[3]Demirkiran M,Jankovic J.Paroxysmal dyskinesias:clinical features and classification[J].Ann Neurol,1995,38(4):571-579.
[4]Lugaresi E,Cirignotta F.Hypnogenic paroxysmal dystonia:epileptic seizure or a new syndrome[J].Sleep,1981,4(2):129-138.
[5]Tinuper P,Cerullo A,Cirignotta F,et al.Nocturnal paroxysmal dystonia with short-lasting attacks:three cases with evidence for an epileptic frontal lobe origin of seizures[J].Epilepsia,1990,31(5):549-556.
[6]Bruno MK,Lee HY,Auburger GWJ,et al.Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia[J].Neurology,2007,68(21):1782-1789.
[7]Meneret A,Gaudebout C,Riant F,et al.PRRT2 mutation and Paroxysmal disorders[J].Eur J Neurol,2013,20(6):872-878.
[8]Rossi P,Sterlini B,Castrolforio E,et al.A Novel topology of prolinerich tranmembrane protein 2(PRRT2):Hints for an intrancellular funvtion at the synase[J].J Biol Hem,2016,291(12):6111-6123.
[9]Guerrini R,Mink JW.Paroxysmal disorders associated with PRRT2mutations shake up expectations on ion channel genes[J].Neurology,2012,79(21):2086-2098.
[10]Gardiner AR,Jaffer F,Dale RC,et al.The clinical and genetic heterogeneity of paroxysmal dyskinesias[J].Brain,2015,138:3567-3580.
[11]Wood H.Genetics:expanding the spectrum of neurological disorders associated with PRRT2 mutations[J].Nat Rev Neurol,2012,8(12):657-657
[12]Wang JL,Cao L,LI XH,et al.Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesia[J].Brain,2011,134(12):3491-3501.