小脑

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。

Spinocerebellar ataxia is an autosomal dominant hereditary neuron disorder disease.

脊髓小脑萎缩症(Spinocerebellar ataxia， SCA)是一种体染色体显性的遗传性神经元退化性疾病。

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。

The studies were of predictive genetic testing for Huntington's disease, hereditary breast and ovarian cancer, familial adenomatous polyposis and spinocerebellar ataxia.

这些文献进行的研究包括了，杭丁顿氏症、遗传性乳癌及卵巢癌、家族性大肠腺肿症、小脑脊髓萎缩症等疾病之预报性遗传检验。

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。

Spinocerebellar degeneration ; Dystonia ; Spastic paraplegia ; hereditary ; Genes ; dominant ; Chromosomes ; human

脊髓小脑变性；张力障碍；痉挛性截瘫；遗传性；基因；显性；染色体；人

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。

He suffers spinocerebellar ataxia, or "SCA", a degenerative genetic disease that attacks a person's muscles and their ability to control them.

杨文港跪坐在地上，用双手挖地施肥播种，他罹患脊髓小脑萎缩症，一种渐进性退化性遗传疾病，影响人体肌肉的功能，但杨文港不向命运低头，开创出整片农园。

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

She gently rebuff ed him, but agreed that they could be friends

她婉言拒绝了，但同意作为朋友相处。

If in the penal farm, you were sure to be criticized.

要是在劳改农场，你等着挨绳子吧！