共济失调

Oint mutation of PKCγ gene can induce inherited retinitis pigmentosa,spinocerebellar ataxia and tumors.

KCγ基因点突变可诱发遗传性色素性视网膜炎、脊髓小脑共济失调和肿瘤等。

Spinocerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders.

第一部分 SCA家系致病基因定位第一章一个新的SCA家系致病基因定位脊髓小脑型共济失调(spinocerebellar ataxias，SCA)是一种具有高度临床和遗传异质性的神经系统退行性疾病，多呈常染色体显性遗传。

Objective To study the frequency distribution of spinocerebellar ataxia type 17 in mainland China and the normal range of CAG/CAA repeats of TATA-binding protein gene in Han population in southern China.

目的 研究中国大陆脊髓小脑性共济失调（spinocerebellar ataxias，SCA）17型（SCA17）的分布频率，以及南方汉族健康人群TATA结合蛋白（TATA-binding protein，TBP）基因CAG/CAA重复次数正常变异范围。

Since the identification of the first gene responsible for spinocerebellar ataxia type 1 (SCA1) in 1993, an increasing number of genes and chromosomal loci have been characterized.

我们收集到一个来自中国湖南望城的常染色体显性遗传SCA家系，主要临床特点为晚发缓慢进展的小脑性共济失调，起病年龄在40-52岁，平均47.25±4.37岁，可伴有痉挛性斜颈，头部MRI表现为小脑萎缩，家系未观察到遗传早现现象。

Objective To study the normal range of CAG repeats of dentatorubropallidoluysian atrophy gene in Han population of South China mainland,and the frequency of DRPLA CAG trinucleotide repeat expansion in spinocerebellar ataxia of China mainland.

目的研究中国大陆南方正常人群齿状核红核苍白球路易体萎缩基因n正常变异范围，以及DRPLA基因n扩展突变在中国大陆脊髓小脑型共济失调患者中的分布。

To investigate the gene mutation of clinical and neuroelectrophysiological characteristics in Machado-Joseph disease. The gene mutation was detected in 45 patients diagnosed as spinocerebellar ataxia and 30 "healthy relatives". Brain stem evoked potentials, visual evoked potentials and motor conduction velocity and sensory conduction velocity were performed on MJD.

为了解Machado-Joseph病基因突变及临床的神经电生理特点，对16个诊断为遗传性小脑性共济失调家系的45例病人及30例家系的&正常&人作MJD基因突变分析，检出MJD基因的病人行肢体运动及感觉神经传导速度、脑干诱发电位，视觉诱发电位的检查。

Objective Machado-Joseph disease/Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by an expansion of polyglutamine tract near the C-terminus of the MJD1 gene product, ataxin-3. The precise mechanism of the MJD/SCA3 pathogenesis remains unclear.

目的 马查多-约瑟夫病/脊髓小脑共济失调3型，是由 MJD1基因产物ataxin-3的C-末端的多聚谷氨酰胺发生重复扩展突变而引起的一种常染色体显性遗传的神经退行性疾病，目前它的发病机制还不清楚。

Hereditary spinocerebellar ataxia Trinucleotide repeat Gene diagnosis

遗传性脊髓小脑型共济失调；三核苷酸重复；基因诊断

Piglet edema were first discovered in Britain, is hemolytic E. coli intestinal toxemia, so capillaries or systemic damage to the small blood vessels, increasing permeability and fluid extravasation too much water, to the head, eyelids, Equality ear edema, acute ataxia and death as the main feature of acute infectious diseases, also known as gastrointestinal edema pigs or pig intestinal toxemia E. coli, a highly lethal disease.

仔猪水肿病最早发现于英国，是由溶血性大肠杆菌引起肠毒血症，而使全身毛细血管或小血管受到破坏，通透性增大，水液外渗过多，造成的以头部、眼睑、耳部等处水肿、共济失调和急性死亡为主要特征的急性传染病，又称猪胃肠水肿或猪大肠杆菌肠毒血症，有高度致死性疾病。

Clinical features of HSLE were different from acute or chronic heroin toxication absolutely.

HSLE的临床表现与急、慢性海洛因中毒完全不同，主要表现为小脑性共济失调。

This one mode pays close attention to network credence foundation of the businessman very much.

这一模式非常关注商人的网络信用基础。

Cell morphology of bacterial ghost of Pasteurella multocida was observed by scanning electron microscopy and inactivation ratio was estimated by CFU analysi.

扫描电镜观察多杀性巴氏杆菌细菌幽灵和菌落形成单位评价遗传灭活率。