脊髓小脑性共济失调

结果：1.所采用的PCR扩增方法能够进行脊髓小脑性共济失调1-3,6-7和12的基因诊断。3%琼脂糖凝胶电泳可用于初步判定患者的基因亚型。

It was a way of antenatal diagnosis and gene diagnosis for patients with or without symptom of spinocerebellar ataxias . Results : The gene types of spinocerebellar ataxias could be a preliminary determined by 3 % agarose gel electrophoresis .

脊髓小脑性共济失调病人的基因诊断和CAG重复扩增研究FA+CAG序贯双诱导治疗复发难治急性髓系白血病4例

Gene Diagnosis and CAG Repeat Analysis of Spinocerebellar Ataxia Cases of Guangxi Region Treating Four Refractory and Relapse Acute Myelocytic Leukemia Patients with Sequential Dual Induction Chemotherapy : FA Combined with Priming Chemotherapy

目的研究细胞凋亡在脊髓小脑性共济失调3型（SCA3）分子发病机制中的作用。

Objective To study the role of cell apoptosis in the molecular pathogenesis of spinocerebellar ataxia type 3 ( SCA3 ) .

【目的】研究分析脊髓小脑性共济失调12型（SCA12）的分子诊断及临床表现特征。

To study the molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 12 ( SCA12 ) .

英格兰东北部17型脊髓小脑性共济失调的最低患病率

Minimum prevalence of spinocerebellar ataxia 17 in the north east of England

细胞凋亡在脊髓小脑性共济失调3型发病机制中的作用

Role of cell apoptosis in the molecular pathogenesis of spinocerebellar ataxia type 3

脊髓小脑性共济失调2型的分子遗传学诊断及临床分析

Molecular Genetic Diagnosis and Clinical Analysis of Characteristics of Spinocerebellar Ataxia Type 2

遗传性脊髓小脑性共济失调7型的基因突变及临床特征分析

Analysis of the gene mutation and clinical characteristic of hereditary spinocerebellar ataxia type 7

脊髓小脑性共济失调的症状前诊断研究

A study on presymptomatic testing for spinocerebellar ataxias

脊髓小脑性共济失调遗传种质库的建立

Establishment of germplasm repository of spinocerebellar ataxia

宁夏地区遗传性脊髓小脑性共济失调3型的临床与分子研究

The Clinical Features and Molecular Biology Studies on Hereditary Spinocerebellar Ataxia Type 3 in Ningxia Area

山东地区脊髓小脑性共济失调5个家系的临床表现和基因突变分析

The Research of Clinical Features and Gene Mutation of Five Families with Spinocerebellar Ataxia in Shangdong

结论：1.脊髓小脑性共济失调是一个世界范围的神经系统遗传疾病，遍布全球6大洲39个国家地区。

Spinocerebellar ataxias is a global disease which were reported in 6 continents including 39 countries or areas .

三峡库区首次确诊1名脊髓小脑性共济失调3型散发患者。

We diagnosised 1 sporadic patients of spinocerebellar ataxia type 3 for the first time in the Three Gorge Reservoir Area . 4 .

三峡库区脊髓小脑性共济失调患者均出现共济失调表现，家系患者的眼球震颤、肌张力异常发生率明显高于散发患者。

The rate of nystagmus and abnormal muscle tension in familial patients was higher than sporadic patients in the Three Gorge Reservoir Area . 3 .

三峡库区首次确诊2个脊髓小脑性共济失调3型家系，其中有20名家系患者。

We diagnosised 2 spinocerebellar ataxia type 3 pedigrees , including 20 familial patients , for the first time in the Three Gorge Reservoir Area . 3 .

结论：1.三峡库区脊髓小脑性共济失调患者的首发症状以行走不稳为主，部分散发患者表现言语不清和视力减退。

Onset symptom of spinocerebellar ataxias was gait instability and some sporadic patients featured of tongue trips and vision impaired in the Three Gorge Reservoir Area . 2 .