20xx年醫(yī)學(xué)專題—第十六章-神經(jīng)系統(tǒng)遺傳病15-文庫吧
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【正文】 2) 基因診斷(gene detection)： 方法包括: Southern Hybridization，PCR 3) Gene production detection： 假性肥大肌營(yíng)養(yǎng)不良測(cè)定肌細(xì)胞膜上抗肌萎縮蛋白(dystrophin),第十七頁，共五十四頁。,5. treatment and Prevention No effective treatment 基因治療(gene therapy)是指應(yīng)用基因工程技術(shù)來更換、校正或增補(bǔ)(zēngbǔ)基因，以達(dá)到治療遺傳病的目的，但目前基因治療還很不成熟； 其他治療包括：Operation。 medicine therapy；Diet therapy；symptom therapy。 rehabilitation。,第十八頁，共五十四頁。,Prevention：important 遺傳咨詢(zīxn)（genetic counseling)； 避免近親結(jié)婚； 攜帶者檢測(cè)(carrier detection)； 產(chǎn)前診斷； 選擇性人工流產(chǎn)(selective abortion)；,第十九頁，共五十四頁。,第二節(jié) hereditary ataxia,1. Conception： Hereditary ataxia is a group of inherited and degenerative disorders of CNS. Characterized by slowly progressive ataxia. These disorders show considerable clinic variability. But, genetic background, ataxia and spinocerebellar lesion are mainly clinical features of them.,第二十頁，共五十四頁。,2. Classification : Traditional classification by pathologic findings: Spinal Ataxia 。 Spinocerebellar Ataxia。 Cerebellar ataxia。 New classification by the onset of age, clinical features, Genetic pattern and location of gene mutation（參考(cānkǎo)表161）by Harding (1993 ) p.270,第二十一頁，共五十四頁。,Friedreich 型共濟(jì)失調(diào) Friedreich report this disease firstly in 1863，Its incidence rate is 2 /100000，It is a earlyonset ataxia and transmitted by autosomal recessive inheritance,第二十二頁，共五十四頁。,1. Etioligy and Pathogenesis Friedreich ataxia(FRDA)是由位于9號(hào)染色體長(zhǎng)臂(9q1321.1)基因缺陷所致。95%以上的病人有該基因第18號(hào)內(nèi)含子( intron )GAA異常擴(kuò)增（66~1700次），正常人GAA重復(fù)(ch243。ngf249。)42次以下，擴(kuò)增的GAA形成的異常螺旋結(jié)構(gòu)可抑制基因轉(zhuǎn)錄(gene transcription)。 Friedreich共濟(jì)失調(diào)的基因產(chǎn)物Frataxin蛋白主要位于spinal cord、 Skeleton muscle、heart and liver 細(xì)胞線粒體(mitochondrion )的內(nèi)膜，可導(dǎo)致線粒體功能障礙而發(fā)病。,第二十三頁，共五十四頁。,2. Pathology Posterior columns and lateral column of spinal cord are mainly involved ，the spinal cord is thin，especially in thoracal spinal cord。 Microscope can find that cell loss of posterior column,spinocerebellar tract , pyramidal tract degenerate , dorsal root ganglia and Clarke’s column ； peripheral nerve demyelination and gliosis； brainstem、cerebellum and brain are rarely involved； Cardiomyopathy and heart cell hypertrophy。,第二十四頁，共五十四頁。,3. clinical findings (1)．The age of onset is 815 years older commonly, with more expanded repeats correlating with earlier onset。 (2). The initial symptom is progressive gait ataxia , followed by ataxia of all limbs within 2 years. usually,both legs are affected simultaneously , difficulty in standing and walking steadily ；the hands usually become clumsy month or years after the gait disorder with intention tremor；Dysarthric speech appears after the arms are involved (rarely is this an early symptom)。,第二十五頁，共五十四頁。,(3)．Physical examination: 可見水平眼震(horizontal nystagmus)，垂直性(vertical)和旋轉(zhuǎn)(xu225。nzhuǎn)性(rotatory)眼震較少。 雙下肢肌無力，肌張力低(muscle tone decreased)，跟膝脛試驗(yàn)(Heelkneeshin)和閉
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