神经系统遗传病专家讲座.pptxVIP

第十六章神经系统遗传病

;Geneticdiseaseofnervoussystem

1、Introduction

2、FriedreichAtaxia

3、SpinocerebellarAtaxia(SCA)

4、Charcot-Marie-ToothDisease

掌握：

1、Friedreich型共济失调主要临床特征、临床表现。

2、脊髓小脑性共济失调临床表现、诊疗及判别诊疗。;熟悉：

1、Friedreich型共济失调病因、发病机制。

2、脊髓小脑性共济失调病因、发病机制。

3、腓骨肌萎缩症(CMT)临床表现、诊疗及判别诊疗。

;第一节GeneralIntroduction;ClassificationandGeneticpattern;1.Monogenicdisorders：Thebasereplacement,Insert,Deletion,repeatorabnormalexpansionofsinglegene.

Autosomaldominantdisorders

Autosomalrecessivedisorders

X-linkeddominantdisorders

X-linkedrecessivedisorders

动态突变性遗传

CommonDiseases:Charcot-Marie-Tooth,Duchennemusculardystrophy,WilsonDisease,HereditaryAtaxia

;2.polygenicdisorders:areinfluencedbygenesincomplexwayswhicharepoorlyunderstoodbutinvolvetheinteractionofmultiplegenesandinteractionsbetweengenesandenvironmentalfactors

Thecommonpolygenicdisorders:

Epilepsy,migraineandarteriosclerosis.

;3.线粒体遗传病(mitochondrialdisorders)

Mitochondrialdisordersarecausedbymutationofmitochondrion(numberorstructure)，Theyarematernalinheritance.

opticatrophyandmitochondrialencephalomyopathy.

4.Chromosomedisorders

Chromosomedisordersarecausedbythenumberorconstructionabnormalitiesofchromosome.forexample：Down’syndrome

;Symptomsandphysicalsigns;

1.Commonsymptoms:

MentalretardationandDisturbanceofbehavior

Languagedysfunction,dementia

Seizure、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).临床资料搜集：尤其是发病年纪、性别、独特症状和体征，如牛奶咖啡斑

(2).系谱分析(pedigreeanalysis)可判断有没有遗传病和区分类型

(3).常规辅助检验:Includebiochemistry,Electrophysiology,ImagingstudiesandPathology对诊疗和判别诊疗含有主要意义