第十六章神经系统遗传病.ppt

第十六章神经系统遗传病 ic Disease of the Nervous System Department of Neurology Second Affiliated Hospital Harbin Medical University ic 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 ic 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 ic pattern ? Monogenic Disorders ? Polygenic Disorders ? Mitochondrial Disorders ? Chromosome Disorders disorders : The base replacement, Insert, Deletion, repeat or abnormal expansion of single gene. Autosomal dominant disorders Autosomal recessive disorders X-linked dominant disorders X-linked recessive disorders mon Diseases: Charcot -Marie-Tooth, Duchenne muscular dystrophy, Wilson Disease, Hereditary Ataxia 2. polygenic disorders: are influenced by genes plex ways which are poorly understood but involve the interaction of multiple genes and interactions between genes and environmental factors mon polygenic disorders: Epilepsy, migraine and arteriosclerosis. 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 . 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, mon and specific symptoms ? Common symptoms: ? Specific symptoms mon symptoms: ? Mental retardation and Disturbance of behavior ? Language dysfunction, dementia ? Se