第十六章神经系统遗传病.ppt

第十六章 神经系统遗传病 Genetic Disease of the Nervous System Department of Neurology Second Affiliated Hospital Harbin Medical University Genetic disease of nervous system 1、 Introduction 2、 Friedreich Ataxia 3、 Spinocerebellar Ataxia(SCA) 4、 Charcot-Marie-Tooth Disease 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 General Introduction 1. Conception Genetic disease of the nervous system 是指由于生殖细胞（ germ cell）或受精卵（ zygote）中的遗传物质在数量、结构或功能上发生改变，使发育的个体出现以神经系统缺欠(deficiency)为主要临床表现的疾病。 Congenital Disease Family Disease Classification and Genetic pattern Monogenic Disorders Polygenic Disorders Mitochondrial Disorders Chromosome Disorders 3. 线粒体遗传病(mitochondrial disorders ) Mitochondrial disorders are caused by mutation of mitochondrion (number or structure)，They are maternal inheritance. optic atrophy and mitochondrial encephalomyopathy. 4.Chromosome disorders Chromosome disorders are caused by the number or construction abnormalities of chromosome. for example：Down’syndrome Symptoms and physical signs Clinical features are of diversity, include common and specific symptoms Common symptoms: Specific symptoms 1.Common symptoms: Mental retardation and Disturbance of behavior Language dysfunction, dementia Seizure、Nystagmus, Paraesthesia (感觉异常) Involuntary movement(不自主运动)、 Ataxia and Dystonia(肌张力障碍) Muscle atrophy 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.Specific symptom： 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(pedigree analysis)可判断有无遗传病和区分类型 (3). 常规辅助检查: Include biochemistry, Electrophysiology, Imaging studies and Pathology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). ge