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遗传性运动障碍疾病的基因研究进展 总被引:1,自引:0,他引:1
遗传性运动障碍疾病的基因研究进展梁秀龄陈嵘近年来有关遗传性运动障碍疾病的基因研究取得了很大进展,肝豆状核变性、Huntington病、遗传性过度惊跳综合征、多巴反应性肌张力障碍及遗传性进行性肌张力障碍、肌阵挛性癫痫伴不整红边纤维、齿状核-红核-苍白球... 相似文献
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目的 分析两个伴精神障碍的遗传性共济失调家系的临床特点以及5-HT2A,5-HT6,APOE和SCA基因多态性。方法 对在院的SCA先证者的家系调研筛选后,以其一级和二级亲属为对象作精神检查、量表测试,同时应用PCR-RFLP和Amp-FLP技术检测APOE、5-HT2A、5-HT6等基因的多态性和SCA位点的(CAG)n的重复序列的扩增。结果 本组的SCA属非SCA1型,呈显性遗传。SCA病人有较严重的精神障碍伴发,其中以焦虑、自杀倾向和早发痴呆为多见。但未见SCA1位点的(CAG)n重复序列的扩增,以及SCA患者中APOE的ε2/ε3和5-HT2A和A2/A2型增高。结论 本组SCA有较高精神障碍伴发、以焦虑、自杀倾向和早发痴呆为多见。 相似文献
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本文报道一个遗传性脊髓小脑性共济失调(spinocerebellar ataxia.SCA)家系,观察了该家系患者的临床症状、体征及辅助检查结果,并对其中2例患者做了基因检测。我们通过复习相关文献,对该类疾病的发病机制、分类、临床特征等进行了总结以及讨论。[第一段] 相似文献
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遗传性小脑共济失调揿形式诱发电位研究 总被引:2,自引:0,他引:2
目的 研究遗传性小脑共济失调的诱发电位变化。方法 采用多种形式诱发电位,对36例此类疾病的患者进行检测,并与30-40名健康者作对比。结果 全部患者至少存在1各皮上的诱发电位异常。磁刺激运行诱发电位(MEP)、脑干听觉诱发电位(BAEP)及胫后神经与正中神经体感诱发电位的异常率分别为83.3%、88.9%、80.0%和62.5%。不同类型小脑共济失调的诱发电位异常率不同,各型BAEP的异常率普遍较 相似文献
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梁瑞卿 《脑与神经疾病杂志》2004,12(3):178-178
<正> 遗传性共济失调类型较多。笔者遇见一家系2代中五人发病,符合其中小脑橄榄萎缩(HOLmes型)者,现报告如下: 临床资料 先例者(Ⅲ9)女60岁,患者于10年前渐出现步态不稳,走路易跌倒,语言不清,偶感头晕,非旋转性,无耳鸣及视力障碍,病情缓慢进展,无吞咽困难及智力下降。查体:神 相似文献
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遗传性痉挛性共济失调:附1家系4代7例报告 总被引:3,自引:0,他引:3
李林文 《中华神经医学杂志》2003,2(2):160-160
遗传性痉挛性共济失调较少见。作者见1家系4代7人发病,现报告如下:1临床资料 先证者(Ⅲ10),女,22岁,农民。19岁时逐渐出现下肢无力、僵硬,行走步态不稳,易跌倒,且双手持物不牢.做活时易抖动,无大小便障碍。查体:神志清,言语缓慢顿挫,双眼外展受限,可见水平眼震,双下肢肌力Ⅴ级,肌张力呈折刀样增高,双膝、踝反射亢进,髌、踝阵挛阳性,双侧Babinski征(+),双 相似文献
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遗传性小脑共济失调的多形式诱发电位研究 总被引:1,自引:0,他引:1
研究遗传性小脑共济失调的诱发电位变化。方法采用多种形式诱发电位,对36例此类疾病的患者进行检测,并与30~40名健康者作对比。结果全部患者至少存在1种以上的诱发电位异常。磁刺激运动诱发电位(MEP)、脑干听觉诱发电位(BAEP)及胫后神经与正中神经体感诱发电位(tSEP、mSEP)的异常率分别为83.3%、88.9%、80.0%和62.5%。不同类型小脑共济失调的诱发电位异常率不同,各型BAEP的异常率普遍较高,橄榄-桥脑-小脑萎缩患者的MEP与遗传性痉挛性共济失调的tSEP异常率也很高。MEP测试时,刺激皮质在患者中所记录到的双峰波、多相波以及波宽增加,表明皮质运动神经元的异常放电。结论多形式诱发电位改变应列为慢性小脑变性分类学上的诊断依据 相似文献
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发作性运动障碍病的分类及其临床特点 总被引:2,自引:0,他引:2
发作性运动障碍病(PMD)由发作性异常运动(PD)和发作性共济失调(EA)两大类疾病组成。现就PMD的分类及其临床特点综述如下。1PMD的分类1940年Mount和Reback首次报道了第1例PMD病例,命名为家族性发作性舞蹈手足徐动症之后有很多病例报道,并形成了一些分类[1]。1977年Lance[2]报道了12例家族性发作性肌张力障碍性舞蹈手足徐动症(PDC),并回顾分析了已报道的100例病例,根据发作的持续时间建议分类为:(1)PDC,发作时间持续2min~4h;(2)发作性运动诱发性舞蹈手足徐动症(PKC),被突然的自主运动所诱发,发作时间短暂,数秒~5min;(3)中间型,… 相似文献
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H. L. Klawans Jr. R. Rubovits 《Journal of neural transmission (Vienna, Austria : 1996)》1972,33(3):235-246
Summary There are numerous clinical and experimental similarities between amine induced stereotyped behavior and tardive dyskinesia. The results presented here show that chronic pretreatment of guinea pigs with chlorpromazine produces a persistent reduction in the amounts of amphetamine or apomorphine needed to induce stereotyped behavior. It is suggested that chlorpromazine pretreatment may alter the sensitivity of the striatal dopaminergic receptors to dopamine. The alteration in receptor site responsiveness produced by prolonged chlorpromazine pretreatment may be analogous to the neuroleptic induced tardive dyskinesias. The same dopaminergic mechanism may underlie both the amine stereotyped behavior seen in animals and tardive dyskinesias in man, while lingual-facial-buccal dyskinesias may be the human equivalent of the stereotypies seen in animals when the dopaminergic response in the striatum is increased.Dr.Rubovits is a resident in the Department of Psychiatry, University of Maryland Hospital, Baltimore, Maryland. 相似文献
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H A Nasrallah 《Schizophrenia bulletin》1979,5(1):1-2
Research into tardive dyskinesia, an involuntary movement disorder secondary to chronic neuroleptic treatment, has so far produced conflicting results with no clear clinical applications. Heterogeneous diagnostic criteria, research designs, and rating scales, plus an emphasis on single-drug trials, are probably responsible. A strategy of developing pharmacological response profiles for patients participating in tardive dyskinesia research is suggested as one way to produce meaningful data, which may delineate pharmacological and clinical subtypes that would respond to different treatment approaches. Further suggestions are made about future trends in this area of research. 相似文献
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E F Domino W W May S Demetriou B Mathews S Tait B Kovacic 《Neuropsychopharmacology》1985,20(11):1189-1196
A double-blind controlled study was undertaken to examine the value of phosphatidylcholine as a treatment for tardive dyskinesia (TD) in 19 psychiatric patients. All patients were maintained on their usual psychotropic medication throughout the entire study. In addition, they were given either phosphatidylcholine (30 g/day) or placebo for 6 weeks. Thirteen of the patients received the crossover treatment for 6 weeks, after which 10 of the 13 were continued on the crossover medication for an additional 6 weeks. At the end of the study, 5 patients had received phosphatidylcholine for 12 weeks and another 12 patients had received the drug for only 6 weeks. Plasma and red blood cell choline levels were monitored every 3 weeks as a measure of compliance. Although some patients showed clinical improvement of their TD, the results did not differ significantly between active drug and placebo. This was in spite of a marked elevation of plasma and red blood cell choline (up to 300% for the Lafayette Clinic patients and up to 400% for the patients from the Ypsilanti Regional Psychiatric Hospital) during treatment with phosphatidylcholine. Side effects of the drug included occasional gastrointestinal upsets and diarrhea but, in general, the medication was tolerated very well. The results indicate that large doses of phosphatidylcholine of soya origin are of no clinical value in treating symptoms of TD in spite of very large increases in blood choline. 相似文献
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In a group of ovariectomized monkeys, a persistent buccolingual dyskinesia resembling tardive dyskinesia was induced by an upper midbrain lesion. This dyskinesia was increased by apomorphine. A single dose of haloperidol (1 mg/kg) reduced the effect of apomorphine after 24 hours and caused an increase in CSF homovanillic acid. Fifteen days later, however, the response to apomorphine was markedly enhanced. Estradiol benzoate (0.5 mg sc) had a similar biphasic effect, although of lesser magnitude. In a different group of lesioned but non-dyskinetic animals, the CSF concentration of HVA also was elevated 24 hours after estradiol. These results support our hypothesis that estradiol shares several properties with neuroleptics, and in particular, reduces, then enhances the sensitivity of striatal dopaminergic receptors. 相似文献
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L-DOPA-induced dyskinesia (LID) is a major complication of the pharmacotherapy of Parkinson's Disease. A model of LID has recently been described in rats with unilateral 6-hydroxydopamine (6-OHDA) lesions. In the present study, the model was used in order to compare the efficacies of some clinically available compounds that have shown antidyskinetic effects in nonhuman primate models of LID and/or in patients, namely, amantadine (20 and 40 mg/kg), buspirone (1, 2 and 4 mg/kg), clonidine (0.01, 0.1 and 1 mg/kg), clozapine (4 and 8 mg/kg), fluoxetine (2.5 and 5 mg/kg), propranolol (5, 10 and 20mg/kg), riluzole (2 and 4 mg/kg), and yohimbine (2 and 10 mg/kg). Rats were treated for 3 weeks with L-DOPA for an induction and monitoring of abnormal involuntary movements (AIMs) prior to the drug screening experiments. The antidyskinetic drugs or their vehicles were administered together with L-DOPA, and their effects were evaluated according to a randomized cross-over design both on the AIM rating scale and on the rotarod test. Most of the compounds under investigation attenuated the L-DOPA-induced axial, limb and orolingual AIM scores. However, the highest doses of many of these substances (but for amantadine and riluzole) had also detrimental motor effects, producing a reduction in rotarod performance and locomotor scores. Since the present results correspond well to existing clinical and experimental data, this study indicates that axial, limb and orolingual AIMs possess predictive validity for the preclinical screening of novel antidyskinetic treatments. Combining tests of general motor performance with AIMs ratings in the same experiment allows for selecting drugs that specifically reduce dyskinesia without diminishing the anti-akinetic effect of L-DOPA. 相似文献