第十六章神经系统遗传病Geneticdiseaseofnervoussystem1、Introduction2、FriedreichAtaxia3、SpinocerebellarAtaxia(SCA)4、Charcot-Marie-ToothDisease掌握：1、Friedreich型共济失调的主要临床特征、临床表现。2、脊髓小脑性共济失调的临床表现、诊断及鉴别诊断。熟悉：1、Friedreich型共济失调的病因、发病机制。2、脊髓小脑性共济失调的病因、发病机制。3、腓骨肌萎缩症(CMT)的临床表现、诊断及鉴别诊断。第一节GeneralIntroductionClassificationandGeneticpattern1.Monogenicdisorders：Thebasereplacement,Insert,Deletion,repeatorabnormalexpansionofsinglegene.AutosomaldominantdisordersAutosomalrecessivedisordersX-linkeddominantdisordersX-linkedrecessivedisorders动态突变性遗传CommonDiseases:Charcot-Marie-Tooth,Duchennemusculardystrophy,WilsonDisease,HereditaryAtaxia2.polygenicdisorders:areinfluencedbygenesincomplexwayswhicharepoorlyunderstoodbutinvolvetheinteractionofmultiplegenesandinteractionsbetweengenesandenvironmentalfactorsThecommonpolygenicdisorders:Epilepsy,migraineandarteriosclerosis.3.线粒体遗传病(mitochondrialdisorders)Mitochondrialdisordersarecausedbymutationofmitochondrion(numberorstructure)，Theyarematernalinheritance.opticatrophyandmitochondrialencephalomyopathy.4.ChromosomedisordersChromosomedisordersarecausedbythenumberorconstructionabnormalitiesofchromosome.forexample：Down’syndromeSymptomsandphysicalsigns1.Commonsymptoms:MentalretardationandDisturbanceofbehaviorLanguagedysfunction,dementiaSeizure、Nystagmus,Paraesthesia(感觉异常)Involuntarymovement(不自主运动)、AtaxiaandDystonia(肌张力障碍)Muscleatrophy还可有五官畸形、脊柱裂、弓型足、指（趾）畸形、皮肤毛发异常和肝脾肿大；2.Specificsymptom：肝豆状核变性—K-F环、共济失调毛细血管扩张症—结合膜毛细血管扩张结节性硬化症—面部皮脂腺瘤神经纤维瘤—皮肤牛奶咖啡斑4.Diagnosis:(1).临床资料的搜集：尤其是发病年龄、性别、独特的症状和体征，如牛奶咖啡斑(2).系谱分析(pedigreeanalysis)可判断有无遗传病和区分类型(3).常规辅助检查:Includebiochemistry,Electrophysiology,ImagingstudiesandPathology对诊断和鉴别诊断具有重要意义，如：假肥大型肌营养不良—血清学；肝豆状核变性—血清铜兰蛋白、血清铜和尿铜;腓骨肌萎缩症—神经活检;脊髓小脑性共济失调,橄榄脑桥小脑萎缩的头颅MRI;(4).geneticdiagnosis：1)染色体检查(karyotypeanalysis)：染色体数目异常；染色体结构畸变(constructiveaberration):2)基因诊断(genedetection)：方法包括:SouthernHybridization，PCR3)Geneproductiondetection：假性肥大肌营养不良--测定肌细胞膜上抗肌萎缩蛋白(dystrophin)5.treatmenta