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发作性运动诱发性运动障碍临床分析

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摘要 目的探讨发作性运动诱发性运动障碍的临床特点。方法对23例PKD患者的临床资料进行分析,归纳其特点。结果 23例患者起病年龄6~18岁,病程1~27a,男性占大多数,男女比例为3.6∶1。突发启动的自主运动诱发,以单侧肢体舞蹈样手足徐动多见,部分表现为双侧,持续10s左右,无意识障碍,脑电图、头颅MRI、CT正常。小剂量卡马西平控制发作。结论 PKD是一种发作性运动诱发的、短暂的局部或全身不随意运动,卡马西平治疗有效。
出处 《中国实用神经疾病杂志》 2017年第12期86-87,共2页 Chinese Journal of Practical Nervous Diseases
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  • 1Bruno 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.
  • 2Tomita H,Nagamitsu S,Wakui K,et al.Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1[J].Am J Hum Genet,1999,65(6):1688-1697.
  • 3Valente EM,Spacey SD,Wali GM,et al.A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16[J].Brain,2000,123(Pt10):2040-2045.
  • 4Bennett LB,Roach ES,Bowcock AM.A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16[J].Neurology,2000,54(1):125-130.
  • 5Swoboda KJ,Soong B,McKenna C,et al.Paroxysmal kinesigenic dyskinesia and infantile convulsions:clinical and linkage studies[J].Neurology,2000,55(2):224-230.
  • 6Cuenca-Leon E,Cormand B,Thomson T,et al.Paroxysmal kinesigenic dyskinesia and generalized seizures:clinical and genetic analysis in a Spanish pedigree[J].Neuropediat,2002,33(6):288-293.
  • 7Kikuchi T,Nomura M,Tomita H,et al.Paroxysmal kinesigenic choreoathetosis (PKD):confirmation of linkage to 16p11-q21,but unsuccessful detection of mutations among 157 genes at the PKD-critical region in seven PKD families[J].J Hum Genet,2007,52(4):334-341.
  • 8Du T,Feng B,Wang X,et al.Localization and mutation detection for paroxysmal kinesigenic choreoathetosis[J].J Mol Neurosci,2008,34(2):101-107.
  • 9Wang X,Sun W,Zhu X,et al.Paroxysmal kinesigenic choreoathetosis:evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families[J].Eur J Neurol,2010,17(6):800-807.
  • 10Szepetowski P,Rochette J,Berquin P,et al.Familial infantile convulsions and paroxysmal choreoathetosis:a new neurological syndrome linked to the pericentromeric region of human chromosome 16[J].Am J Hum Genet,1997,61 (4):889-898.

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