丁螺环酮治疗小脑性共济失调

目的 :探讨 5 HT1A受体激动剂丁螺环酮改善共济失调症状的作用。方法 :应用评分计分法观察丁螺环酮治疗 2 4例共济失调患者 3个月。结果 :治疗前后共济失调评分 ,包括稳定性、协调性、构音、眼球运动各方面的差异均有显著意义 (P <0 0 0 1) ;焦虑评分在治疗前后的差异无显著性 (P >0 0 5 )。结论 :丁螺环酮短期内可以有效地改善患者小脑性共济失调的症状     

共济失调和丁螺环酮

介绍丁螺环酮治疗共济失调的可能机制、药理作用及其临床应用。     

枸橼酸坦度螺酮改善小脑性共济失调临床研究

目的观察枸橼酸坦度螺酮对改善小脑性共济失调症状的临床疗效。方法选取有小脑性共济失调症状的患者35例口服枸橼酸坦度螺酮治疗,治疗前后分别用共济失调量表及汉密尔顿焦虑量表进行评定。结果治疗后患者姿势和步态障碍、动态功能较治疗前有明显改善(P<0.01),语言障碍和眼球运动障碍较治疗前无明显改善(P>0.05),轻中度患者治疗前后焦虑评分无明显差异,重度患者治疗后焦虑评分明显降低(P<0.01)。结论枸橼酸坦度螺酮短期内可有效改善患者小脑性共济失调症状。     

外科治疗小脑性共济失调35例

1992年5月起，我们手带蒂领肌和领浅动脉脑皮层贴敷治疗大脑半球缺血性疾病的基础上，设计了用两侧枕动脉和枕肌小脑贴敷与后颅窝减压的手术方法，治疗小脑性共济失调35例，现报告如下。1临床资料1．1一般资料本组男19例，女16例，年龄12－56岁，平均36．7岁，病程2－12年。家性遗传性共济失调16例，外伤性小脑性共济失调1例，推—基底动脉供血不足性共济失调2例，橄榄体桥小脑萎缩5例，脊髓小脑共济失调6例，小脑发育不全5例。1．2临床表现四肢共济失调、步态不稳、行走瞒册35例（100％），不同程度的眼球震颤35例（100％），语言欠流利或…     

利培酮合并丁螺环酮治疗偏执型精神分裂症的疗效对比分析

丁螺环酮为五羟色胺1A（5-HT1A）受体激动剂,临床上主要用于治疗焦虑障碍.为研究利培酮合并丁螺环酮治疗偏执型精神分裂症的疗效,并与单独利培酮的治疗进行比较,现将结果报告如下：     

百优解治疗小脑性共济失调与血小板5—HT测定

目的探讨百优解治疗小脑性共济失调的疗效和作用机制.方法接受百优解治疗的患者20例,治疗前后进行病情评分和血小板5-羟色胺(5-HT)测定,与毒扁豆碱治疗组(26例)、对照组(112例健康查体者)进行疗效对比.结果(1)百优解治疗组的疗效(70.0%)优于毒扁豆碱治疗组(38.5%)(P<0.05);(2)患者组血小板5-HT水平低于对照组,具有极显著意义(P<0.001);(3)百优解治疗前后血小板5-HT浓度改变,有效的10例有下降趋势,无效的5例明显增高.结论(1)百优解对小脑性共济失调具有肯定的疗效,与5-HT代谢缺陷得到纠正有关;(2)血小板5-HT测定可能成为小脑性共济失调诊断和疗效评估的客观化验指标.     

小脑性共济失调13例病例报道

目的:探讨以进行性小脑性共济失调为主要临床症状的疾病诊断。方法:回顾性分析13例以慢性进行性小脑共济失调为主要临床表现患者的临床资料、实验室、影像学和基因检查结果。结果:13例患者中,脊髓小脑性共济失调3例,多系统萎缩-小脑型6例,小脑肿瘤1例,桥小脑结合臂脓肿1例,小脑梗死后遗症2例。结论:对于以进行性小脑共济失调为主要体征的患者,临床上首先要排除占位性病变,其次多系统萎缩和脊髓小脑性共济失调为主要的遗传变性病因。     

脊髓小脑性共济失调一家系的基因诊断

目的 对1个常染色体显性遗传的脊髓小脑性共济失调(SCA)家系进行基因诊断.方法 采用PCR技术,对一汉族SCA家系(包括3例患者及3位无症状成员)及50名正常对照者的SCA1 ～3基因进行检测,通过琼脂糖凝胶电泳和产物直接测序法计数等位基因内CAG三核苷酸重复次数.结果 该家系中所有成员SCA1、SCA2基因CAG三核苷酸重复次数在正常范围;3例患者SCA3 CAG重复次数分别为67、68和66次,1位无症状成员为71次.结论 该家系为SCA3,基因检测诊断出1例症状前患者.     

原发性自身免疫性小脑性共济失调的临床分析

目的 分析原发性自身免疫性小脑性共济失调（PACA）的临床特征，为对该类疾病的诊断及治疗提供经验。方法 收集2018年1月至2023年1月中南大学湘雅三医院收治的PACA患者，回顾性分析患者的临床表现、实验室检查、影像学资料等。结果 共纳入6例患者，其中男3例，女3例；中位年龄54岁。6例患者急性或亚急性起病，以步态不稳为主要症状，无前驱感染史；脑脊液常规、生化、细胞学和颅脑磁共振成像（MRI）检查基本正常；脑脊液自身免疫性小脑性共济失调抗体和血副肿瘤综合征抗体均为阴性；4例结缔组织病相关指标异常。6例患者中，4例患者接受免疫球蛋白治疗，其中2例合并激素治疗，1例合并激素及环磷酰胺治疗。6例患者经治疗后，步态不稳均有不同程度缓解，接受免疫或激素治疗患者的症状缓解明显。结论 PACA是一种免疫介导的，但未发现明确病因或特定神经元抗体的自身免疫性疾病；临床表现以共济失调为主；脑脊液及影像学检查大致正常；免疫治疗对多数患者是有效的。     

小脑共济失调的过去、现在和未来

回顾小脑性共济失调的研究历史、分类,介绍脊髓小脑共济失调的病因机制和治疗方法。     

小脑性共济失调大鼠模型的行为学和病理学研究

目的：评价海人酸（KA）损毁单侧小脑顶核制备的小脑性共济失调大鼠模型。方法：实验大鼠分为小脑性共济失调模型组（KA模型组）和假手术组。KA模型组采用经立体定向仪定位大鼠左侧小脑顶核注射KA毁损制备单侧小脑性共济失调模型;假手术组在相同部位注入等量生理盐水。用平衡木实验及旋转杠实验检测两组大鼠的行为学改变,并在光学显微镜下观察两组大鼠小脑顶核及小脑的病理改变。结果：KA模型组模型大鼠在平衡木上的得分减少、通过平衡木的时间延长、在旋转杠上持续运动的时间减少,与假手术组相比,差异有统计学意义（P〈0.05）。光学显微镜下病理学观察KA注射位置准确,大鼠小脑左侧顶核神经元细胞破坏,其他周围组织未受影响。在1个月的检测期内,大鼠生存能力好。结论：用KA制备的大鼠小脑性共济失调模型适用于后续的治疗研究。     

Cerebellar Allografts Survive and Transiently Alleviate Ataxia in a Transgenic Model of Spinocerebellar Ataxia Type-1

Spinocerebellar ataxia type 1 (SCA-1) is one of several neurodegenerative diseases, including Huntington's disease, spinobulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and SCA-2, SCA-3, SCA-6, and SCA-7, each caused by an expanded number of CAG repeats in the coding region of their respective genes. The mechanism by which the resulting proteins are pathogenic is unknown. Clinical trials of neural transplants in Huntington's disease patients are under way. While initial reports are encouraging, definitive evidence of graft survival in patients despite the ongoing disease process is not possible with current imaging techniques. Transplants in primates have shown long-term survival of striatal grafts and recovery of function, but have used lesioning to model Huntington's phenotypically. Studies of striatal grafts in a transgenic mouse model of Huntington's have not yet shown a behavioral benefit. We describe a behavioral benefit of cerebellar grafts in a transgenic model of SCA-1 in which the ataxic phenotype results from expression of an expanded ataxin-1 protein. Mice were transplanted at an age when their ataxic phenotype is just becoming evident. Compared with sham-operated littermates, grafted mice showed better performance on multiple behavioral tests of cerebellar function. Differences persisted for 10 to 12 weeks posttransplant, after which there was a progressive decline in motor performance. At 20 weeks postsurgery, donor Purkinje cell survival was evident in 9 of 12 graft recipients. These results indicate that transplants can have behavioral benefits and grafts can survive long-term despite the ongoing pathological process in a brain actively expressing an expanded polyglutamine protein.     

Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease

Tandospirone citrate (tandospirone) is an anti-anxiety drug that acts by combining with serotonin receptor (5-hydroxytryptamine-1 A [5-HT1A]). Recently, there have been a few reports of its potential role in the treatment of cerebellar ataxia. We report the first case of a patient with Machado-Joseph disease in which we successfully treated cerebellar ataxia. In addition, his leg pain, insomnia, anorexia, and depression, which are thought to be related to 5-HT1A receptors, were also remarkably alleviated by treatment with tandospirone.     

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation

PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. A 21-year-old woman reported an episode of dizziness and ataxic gait occurring after swimming. Brain MRI showed a hyperintense cerebellar lesion on diffusion-weighted imaging (DWI) with decreased apparent diffusion coefficient. The clinical course was favorable. Both clinical and MRI abnormalities regressed. Her brother had presented PKD since adulthood. A C.649dupC PRRT2 truncating mutation was identified in both patients. To our knowledge, this is the first case of an acute cerebellar ataxia associated with heterozygous PRRT2 mutation and transient cerebellar hyperintensity on DWI. Among the clinical and genetic heterogeneities of familial paroxysmal disorders, PRRT2 mutation may be considered in patients with episodic cerebellar ataxia and diffusion restriction on neuroimaging.