失调

We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia.

对一脊髓小脑性共济失调(Spinocerebenllar ataxia， SCA)家系的患者进行临床特征及相关基因突变研究。

Spinocerebellar ataxia type 7 (SCA7) is less variable in clinical presentation than other SCAs.

脊髓小脑性共济失调7型（SCA7）的临床表现形式较其它SCA类型少。

Ataxin-1 is another pathogenic protein which causes a disease called spinocerebellar ataxia, which is also an incurable hereditary nervous disorder.

Ataxin-1是另一种致病蛋白，它能够引起脊髓小脑性共济失调，也是一种不能治愈的遗传性神经系统疾病。

Objective To screen for proteins interacting with ataxin-3 by yeast two-hybrid system 3, and to discuss the function of ataxin-3 and pathogenesis of spinocerebellar ataxia type 3 and Machado-Joseph disease (SCA3/MJD).

目的：利用酵母双杂交系统3筛选与ataxin-3相互作用的蛋白质，探讨ataxin-3的功能和脊髓小脑型共济失调Ⅲ型(SCA3/MJD)的发病机制。

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。

In the negative and interrogative forms, of course, this is identical to the non-emphatic forms.

。但是，在否定句或疑问句里，这种带有"do"的方法表达的效果却没有什么强调的意思。

Go down on one's knees;kneel down

屈膝跪下。。。下跪祈祷