>
网站首页期刊介绍通知公告编 委 会投稿须知电子期刊广告合作联系我们
最新消息:
家族性运动障碍与面肌颤搐一例并文献复习
作者:向秋莲  郭虎  陆海英  卢孝鹏 
单位:南京医科大学附属儿童医院 神经内科, 江苏 南京 210008
关键词:运动障碍 家族性 面肌颤搐 ADCY5基因 病例报告 
分类号:R446.9
出版年·卷·期(页码):2018·37·第六期(1075-1078)
摘要:
参考文献:

[1] 张环,罗曙光.原发性肌张力障碍相关基因的研究现状[J].临床神经病学杂志,2015(3):234-235.
[2] MENCACCI N E,CARECCHIO M.Recent advances in genetics of chorea[J].Curr Opin Neurol,2016,29(4):486-495.
[3] MENCACCI N E,KAMSTEEG E J,NAKASHIMA K,et al.De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions[J].Am J Hum Genet,2016,98(4):763-771.
[4] MORGAN J C,KUREK J A,DAVIS J,et al.ADCY5 mutations are another cause of benign hereditary chorea[J].Neurology,2016,86(10):978-979.
[5] ZECH M,BOESCH S,JOCHIM A,et al.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up[J].Mov Disord,2017,32(4):549-559.
[6] RASKIND W H,FRIEDMAN J R,ROZE E,et al.ADCY5-related dyskinesia:comments on characteristic manifestations and variant-associated severity[J].Mov Disord,2017,32(2):305-306.
[7] WESTENBERGER A,BRüGGEMANN N,DOMINGO A,et al.Alternating hemiplegia of childhood as a new presentation of adenylate cyclase 5-mutation-associated disease:a report of two cases[J].J Pediatr,2017,181:306-308.
[8] CARAPITO R,PAUL N,UNTRAU M,et al.A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia[J].Mov Disord,2015,30(3):423-427.
[9] DOUGLAS A G,ANDREOLETTI G,TALBOT K,et al.ADCY5-related dyskinesia presenting as familial myoclonus-dystonia[J].Neurogenetics,2017,18(2):111-117.
[10] CHANG F C F,ANA W,DALE R C,et al.Phenotypic insights intoADCY5-associated disease[J].Mov Disord,2016,31(7):1033-1040.
[11] FERNANDEZ M,RASKIND W,WOLFF J,et al.Familial dyskinesia and facial myokymia (FDFM):a novel movement disorder[J].Ann Neurol,2001,49(4):486-492.
[12] CARECCHIO M,MENCACCI N E,IODICE A,et al.ADCY5-related movement disorders:frequency,disease course and phenotypic variability in a cohort of paediatric patients[J].Parkinsonism Relat Disord,2017,41:37-43.
[13] CHEN D H,MÉNERET A,FRIEDMAN J R,et al.ADCY5-related dyskinesia:broader spectrum and genotype-phenotype correlations[J].Neurology,2015,85(23):2026-2035.
[14] FRIEDMAN J R,MÉNERET A,CHEN D H,et al.ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias[J].Mov Disord,2016,31(1):147-148.
[15] RASKIND W H,MATSUSHITA M,PETER B,et al.Familial dyskinesia and facial myokymia (FDFM):follow-up of a large family and linkage to chromosome 3p21-3q21[J].Am J Med Genet B Neuropsychiatr Genet,2009,150B(4):570-574.
[16] CHEN Y Z,MATSUSHITAM M,ROBERTSON P,et al.Autosomal dominant familial dyskinesia and facial myokymia:single exome sequencing identifies a mutation in adenylate cyclase 5[J].Arch Neurol,2012,69(5):630-635.
[17] CHEN Y Z,FRIEDMAN J R,CHEN D H,et al.Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia[J].Ann Neurol,2014,75(4):542-549.
[18] 中华医学会神经病学分会帕金森病及运动障碍学组.肌张力障碍诊断与治疗指南[J].中华神经科杂志,2008,41(8):570-573.
[19] DY M E,CHANG F C,DE J S,et al.Treatment of ADCY5-associated dystonia,chorea,and hyperkinetic disorders with deep brain stimulation:a multicenter case series[J].J Child Neurol,2016,31(8):1027-1035.
[20] MEIJER I A,MIRAVITE J,KOPELL B H,et al.Deep brain stimulation in an additional patient with ADCY5-related movement Disorder[J].J Child Neurol,2017,32(4):438-439.

服务与反馈:
文章下载】【发表评论】【查看评论】【加入收藏
提示:您还未登录,请登录!点此登录
您是第 412685 位访问者


copyright ©《东南大学学报(医学版)》编辑部
联系电话:025-83272481 83272483
电子邮件:
bjb@pub.seu.edu.cn

苏ICP备09058364