小脑性共济失调

Waddles小鼠遗传性小脑性共济失调的分子机制的研究

The Molecular Mechanism of Hereditary Cerebellar Ataxia in Waddles Mouse

1例大剂量（16h内服卡马西平1.6g）服用卡马西平出现意识障碍、小脑性共济失调。

Consciousness disorders and cerebellar ataxia in one patient induced by large dose oral administration of carbamazepine ( 1.6 g , po , during 16 h ) .

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

小脑性共济失调患者的康复评定与治疗

Rehabilitative evaluation and treatment for patient with cerebellar ataxia

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

目的：观察透穴刺法治疗中风后小脑性共济失调的临床疗效。

Purpose To observe therapeutic effect of point-throuth-point therapy on cerebellar ataxia after stroke .

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 .

入院后查体有小脑性共济失调、肢体肌张力铅管样增高和锥体束征。

A detailed physical examination shows cerebellar ataxia , lead pipe-like rigidity , positive pyramidal sign but orthostatic hypotension .

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 .

临床表现为进行性小脑性共济失调，可伴有锥体外系症状，锥体束征及直立性低血压。

Progressive cerebellar ataxia was the main clinical symptom , other manifestations included extrapyramidal system and pyramidal tract sign and orthostatic hypotension . MRI showed atrophy olf cerebellum and brainstem .

方法：采用透穴刺法治疗中风后小脑性共济失调50例，并随机设头针治疗对照组40例，进行临床对照观察。

Methods Point-through-point therapy was used for treatment of 50 cases of cerebellar ataxia after stroke , and other 40 cases treated with scalp acupuncture was used as control group .

各型的发病年龄无明显差别。2.临床表现相互重叠，临床表现主要以小脑性共济失调步态、构音障碍最常见、也是最早出现的临床症状。

The onset age had no significant difference among each type . 2 . The overlap of clinical features between the three SCA subtypes was broad , manifested as cerebellar ataxia and dysarthria .