亨廷顿病的诊断与治疗指南.pdf

亨廷顿病的诊断与治疗指南中华医学会神经病学分会帕金森病及运动障碍学组亨廷顿病(Huntington'sdisease，HD)是一种常染色体显性遗传的神经退行性疾病，由位于4号染色体4p16.3区域的IT-15基凶内CAG三核苷酸重复序列异常扩增所致[1]。典型症状包括舞蹈样症状、认知和精神障碍。本病见于各种族人群，其中以白种人最多见[2]，其患病率为(5-7)/10万，而亚洲人患病率较低，在日本约为0.5/10万。平均发病年龄为40岁，青少年(＜20岁)和老年(＞70岁)也有发病，男女发病差异无统计学意义，发病后生存期15-20年[3]。本病在东方人中较少见，但会对患者及其家庭的生活质量造成极大影响。目前尚无有效延缓病程进展的治疗措施，仍以经验性对症治疗为主。10.3760/cma.j.issn.1006-7876.2011.09.017张宝荣，310009杭州，浙江大学医学院附属第二医院神经内科万方数据·639·万方数据张宝荣@@[1]TheHuntington'sDiseaseCollaborativeResearchGroup.AnovelgenecontainingatrinucleotiderepeatthatisexpandedandunstableonHuntington'sdiseasechromosomes.Cell,1993,72:971-983.@@[2]WalkerFO.Huntington'sdisease.Lancet,2007,369:218-228.@@[3]NovakMJ,TabriziSJ.Huntington'sdisease.BMJ,2010,340:c3109.@@[4]PhillipsW,ShannonKM,BarkerRA.ThecurrentclinicalmanagementofHuntington'sdisease.MovDisord,2008,23:1491-1504.@@[5]冯一鸣，张东友，汪晶，等.亨廷顿病的影像学表现.临床放射学杂志，2008，27:1426-1428.@@[6]张宝荣，殷鑫浈，夏昆，等.舞蹈病家系临床、影像学特征及基因突变分析.中华神经科杂志，2005，38：686-689.@@[7]HarrisMK,ShneyderN,BorazanciA,etal.Movementdisorders.MedClinNorthAm,2009,93:371-388,viii.@@[8]RosenblattA,RanenNG,NanceMA,etal.APhysician'sGuidetotheManagementofHuntingtonDisease.2nded.NewYork:Huntington'sDiseaseSocietyofAmerica,1999.@@[9]HuntingtonStudyGroup.UnifiedHuntington'sDiseaseRating万方数据Scale:reliabilityandconsistency.MovDisord,1996,11:136-forsymptomatictreatmentinHuntington'sdisease.Cochrane142.DatabaseSystRev,2009:CD006456.@@[10]PotterNT,SpectorEB,PriorTW.Technicalstandardsand@@[15]AdamOR,JankovicJ.SymptomatictreatmentofHuntingtonguidelinesforHuntingtondiseasetesting.GenetMed,2004,6:disease.Neurotherapeutics,2008,5:181-197.61-65.@@[16]严雅萍，张宝荣.亨廷顿病的发病机制和治疗进展.中国现代@@[11]BonelliRM,WenningGK.Pharmacologicalmanagementof神经疾病杂志，2011，11:30-35.Huntington'sdisease:anevidence-basedreview.CurrPharm@@[17]FrankS.Tetrabenazine:thefirstapproveddrugforthetreatmentDes,2006,12:2701-2720.ofchoreainUSpatientswithHuntingtondisease.Neuropsychiatr@@[12]BonelliRM,HofmannP.AsystematicreviewofthetreatmentDisTreat,2010,6:657-665.studiesinHuntington'sdisea