脊髓小脑性共济失调

Objective To study the gene mutation of the spinocerebellar ataxia（SCA types 1～3 in the patients with primary dystonia.

目的 研究原发性肌张力障碍患者脊髓小脑性共济失调1～3型基因的突变。

Spinocerebellar ataxia Olivopontocerebellar atrophy Retinal pigmental degeneration Trinucleotide repeat

脊髓小脑性共济失调；橄榄桥脑小脑萎缩；视网膜色素变性；三核苷酸重复

Objective To construct spinocerebellar ataxia 3 (SCA3) eukarotic expression vector with en hanced green fluorescent protein as report gene and to observe its expression in PC12 cells.

目的 构建以增强型绿色荧光蛋白作为报告基因、带有脊髓小脑性共济失调3型(SCA3)基因的真核细胞表达载体，并转染PC12细胞，观察外源基因的表达情况。

Objective To study the gene mutation characteristics of patients with spinocerebellar ataxias in Ningxia region.

目的 研究宁夏地区脊髓小脑性共济失调患者基因突变的特征。

Objective To determine the frequency of different subtypes of spinocerebellar ataxias in the Han nationality of Hunan province in China.

目的：研究湖南汉族人群中脊髓小脑性共济失调不同基因亚型的分布状况。

Spinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability.

脊髓小脑性共济失调是一组常染色体显性的小脑退行性病，具有临床和遗传多样性。

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 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。

In the United States, chronic alcoholism and hepatitis C are the most common ones.

在美国，慢性酒精中毒，肝炎是最常见的。

If you have any questions, you can contact me anytime.

如果有任何问题，你可以随时联系我。