帕金森叠加综合征10例临床分析

目的 分析帕金森叠加综合征的临床特点、影像学特征,为临床诊断提供依据.方法 回顾性分析10例帕金森叠加综合征患者的临床及影像学资料.结果 诊断多系统萎缩(MSA)-C型5例,MSA-P型2例,进行性核上性麻痹(PSP)3例.MSA-C型以小脑症状突出,MSA-P型以锥体外系症状表现为主,PSP以姿势异常、躯干僵直、核上性眼球运动障碍为主要表现.头颅MRI显示MSA-C型的主要病变在脑干、小脑,MSA-P型病变在壳核,PSP的主要病变在中脑.结论 临床表现结合头颅MRI检查可提高帕金森叠加综合征的诊断率.脑干、小脑萎缩有助于MSA-C型诊断,壳核萎缩及壳核背外缘T2WI低信号支持MSA-P型诊断,中脑萎缩支持PSP诊断.     

帕金森病和帕金森叠加综合征11例黑质纹状体病理观察

目的 认识帕金森病（PD）和帕金森叠加综合征黑质纹状体组织细胞病变及异常蛋白质表达特征.方法 对尸检证实的5例PD,3例进行性核上性麻痹（PSP）和3例多系统萎缩（MSA）脑组织标本,进行Gallyas-Braak银染色,tau、α-synuclein、ubiquitin免疫组化染色.观察黑质纹状体组织神经细胞和胶质细胞变性特征及蛋白质表达特性.结果 PD、PSP及MSA的黑质腹外侧区及腹内侧区神经细胞均存在严重脱失.PD黑质神经细胞见α-synuclein和ubiquitin蛋白阳性路易小体.PSP黑质和苍白球神经细胞胞质内存在tau蛋白阳性球状神经原纤维缠结,同时黑质、苍白球还存在tau蛋白阳性葱状星形细胞及线团样少突胶质细胞变性.MSA纹状体神经细胞中至重度脱失,并在黑质、纹状体见大量α-synuclein和ubiquitin蛋白阳性、嗜银少突胶质细胞包涵体.结论 PD路易小体和MSA少突胶质细胞包涵体均表达α-synuclein和ubiquitin蛋白,提示这两组疾病存在相同的蛋白质病理基础;PSP黑质纹状体组织存在特征性的神经细胞和星形胶质变性,但其蛋白质病理属于与tau蛋白相关的变性疾病.     

具有帕金森样症状患者相关疾病探讨

目的探讨具有帕金森样症状(PLS)患者的相关疾病。方法收集我院近3年来因PLS而住院的78例患者的临床资料(病史、临床表现和辅助检查结果),按中华医学会神经病学分会运动障碍及帕金森病学组制定的诊断标准确定诊断。结果本组78例患者,出院诊断分别为:帕金森病(PD)36例,继发性帕金森综合征(PS)26例(血管性16例、脑外伤后3例、CO中毒后3例、脑炎后2例,杀虫剂中毒后2例),多系统萎缩(MSA)4例,进行性核上性麻痹(PSP)4例,路易体痴呆(DLB)2例,肝豆状核变性(WD)2例,特发性震颤(ET)2例,基底节钙化症(BGC)1例,皮质基底节变性(CBD)1例。结论具备PLS的疾病谱很广,其中PD大约占60%,另有30～40%的非PD患者具有类似表现,称为非典型帕金森综合征(AP),如多系统萎缩(MSA)、进行性核上性麻痹(PSP)、Wilson病(WD)、路易体痴呆(DLB),基底节钙化症(BGC)、皮质基底节变性(CBD)等,容易误诊,应注意鉴别。     

帕金森叠加综合征(附4例临床报告)

帕金森叠加综合征是完全不同于帕金森综合征的一组疾病。尽管在临床上都具有帕金森综合征的表现,但是由于同时存在多个神经系统的萎缩变性,因而各自具有不同的临床特征。早期诊断有助于对治疗和预后的判断。     

具有帕金森样症状患者的相关疾病探讨

目的探讨具有帕金森样症状(PLS)患者的相关疾病。方法收集本院近3年来因PLS而住院的78例患者的临床资料(病史、临床表现和辅助检查),参照现行权威神经病学教科书、专著和最新文献,作出诊断。结果本组78例患者出院诊断分别为帕金森病(PD)36例,继发性帕金森综合征(PS)26例(血管性16例、脑外伤后3例、CO中毒后3例、脑炎后2例,杀虫剂中毒后2例),多系统萎缩(MSA)4例,进行性核上性麻痹(PSP)4例,路易体痴呆2例,Wilson病2例,特发性震颤2例,基底节钙化症1例,皮质基底节变性1例。结论具备PLS的疾病谱很广,其中PD大约占60%,PS占10%,其余为非典型帕金森综合征(AP),临床医师较陌生,容易误诊,如MSA、PSP、Wilson病、路易体痴呆,基底节钙化症、皮质基底节变性等,应注意鉴别。     

3T MR的T2WI和磁敏感成像序列对帕金森病、进行性核上性麻痹帕金森型及多系统萎缩帕金森型的鉴别价值

目的评估脑部壳核、齿状核、红核、苍白球在磁敏感成像(SWI)的低信号强度与低信号层数,黑质燕尾征的消失及额颞叶萎缩程度对帕金森病(PD)、进行性核上性麻痹帕金森型(PSP-P)及多系统萎缩帕金森型(MSA-P)的鉴别诊断价值。方法采用MRI的T2WI和SWI序列对30名健康对照、80例PD患者、22例PSP-P患者及17例MSA-P患者进行检查,观察患者脑部壳核、齿状核、红核、苍白球在SWI的低信号强度与低信号层数,黑质燕尾征的消失及额颞叶萎缩程度。采用ROC曲线评价其鉴别诊断价值。结果与PD组比较,PSP-P组壳核低信号强度分级显著升高(P=0.007),PSP-P组和MSA-P组红核低信号强度分级显著降低(P=0.000,P=0.000)。与PSP-P组比较,PD组齿状核、苍白球及MSA-P组苍白球低信号层数显著增加(P=0.002,P=0.000,P=0.008)。与正常对照组比较,PD组、PSP-P组和MSA-P组燕尾征消失比率均显著升高(均P<0.008),但PD、PSP-P、MSA-P三组间燕尾征消失比率差异无统计学意义。与PSP-P组比较,PD组和MSA-P组额颞叶萎缩较轻(P=0.000,P=0.001)。壳核低信号强度鉴别PSP-P与PD的最佳截点为0.5,此时敏感度为88.2%,特异性为66.4%,曲线下面积(AUC)为0.70;额颞叶萎缩程度鉴别PD与PSP-P的最佳截点为0.5,在调整为轻度萎缩后,敏感度为88.2%,特异性为45.1%,AUC为0.74。壳核及红核信号强度、齿状核及苍白球层数、额颞叶萎缩程度联合鉴别PSP-P和PD的AUC为0.939,标准误为0.026,P值为0.000。利用燕尾征消失鉴别健康者和PD、PSP-P时,AUC为95.5。结论壳核和红核信号强度分级、齿状核和苍白球层数、额颞叶萎缩程度对PD、PSP-P、MSA-P的鉴别有一定参考价值。     

多系统变性10例临床分析

多系统变性（multiple system degeneration，MSD）是指原发性神经变性疾病，累及多个神经系统部位如脑干、小脑、锥体外系、自主神经系统、大脑皮质等。主要包括多系统萎缩（MSA），其又包括橄榄桥脑小脑萎缩（OPCA）、Shy-Drager综合征（SDS）、纹状体黑质变性（SND）3个亚型；还有进行性核上性麻痹（PSP）、帕金森-痴呆-肌萎缩侧索硬化综合征、皮质基底节神经节变性、Ahheimer病、偏侧萎缩-帕金森综合征等，临床上以MSA、PSP比较常见。作者将1997-07～2006-02间所收集的10例MSD给予报道并结合文献进行讨论。     

具有帕金森病样症状相关疾病的诊断探讨

目的探讨具有帕金森病样症状(PLS)相关疾病的临床诊断。方法回顾性分析作者医院2008-01-2010-12住院的78例具有PLS患者的临床资料,包括病史、体格检查、临床表现、血液学检查〔包括血生化(肝功能、肾功能、心肌酶谱、电解质、血糖、血脂全套)、血甲状旁腺素、血铜蓝蛋白〕、左旋多巴(L-dopa)试验、头CT和头MRI检查等,并依据PLS相关疾病诊断标准进行临床诊断。结果本组78例患者中,有肌张力增高74例、震颤67例、运动迟缓65例、姿势反射异常56例、步态异常52例、直立性低血压5例、垂直性凝视麻痹4例、角膜K-F环阳性和视幻觉各2例、一侧肢体忽略并失用1例;有肝功能异常5例、血清铜蓝蛋白降低2例和血清甲状旁腺素降低1例;头CT检出基底节区低密度影59例,脑萎缩35例,脑叶软化灶10例,基底节区和小脑半球钙化灶2例;头MRI检出基底节区、脑干、大脑白质异常信号65例,脑桥和小脑萎缩5例,壳核裂隙征4例,脑桥十字征3例,双侧苍白球T2高信号2例,脑干蜂鸟征1例。L-dopa试验反应不良31例。临床诊断为帕金森病(PD)36例,帕金森综合征(PS)28例〔其中血管性16例、中毒后5例(一氧化碳中毒后3例,农药中毒后2例)、脑外伤后3例、感染后和药物性各2例〕,多系统萎缩(MSA)和进行性核上性麻痹(PSP)各4例,路易体痴呆(DLB)和Wilson病(WD)各2例,基底节钙化症(BGC)和皮质基底节变性(CBD)各1例。结论详细可靠的病史、特异性体征、特征性影像学改变、铜蓝蛋白和甲状旁腺素降低及L-dopa试验反应不良,对于PLS患者相关疾病的诊断和鉴别诊断具有重要意义。     

误诊为帕金森病的帕金森叠加综合征八例临床分析

帕金森叠加综合征(parkinsonism plus syndromes,PPS)包括一组中枢神经系统变性疾病,其中较为多见的有多系统萎缩(multiple system atrophy,MSA)、进行性核上性麻痹(progressive supranuclear palsy,PSP)、皮质基底节变性(corticobasal degeneration,CBD)、路易体痴呆     

MRI形态学测量对帕金森病、多系统萎缩及进行性核上性麻痹的鉴别诊断价值

目的探讨MRI形态学测量对帕金森病(PD)、多系统萎缩(MSA)和进行性核上性麻痹(PSP)鉴别诊断价值。方法对PD及帕金森叠加综合征患者的MRI图像进行形态学测量,并计算桥脑/中脑面积比(P/M)、小脑中脚/小脑上脚宽度比(MCP/SCP)及磁共振帕金森指数(MRPI)。应用受试者工作特征曲线(ROC)计算相关指标的诊断效能。结果 PD组中脑面积、MCP宽度、SCP宽度均显著高于MSA-P及PSP组,MSA-P组桥脑面积、MCP宽度、P/M、MCP/SCP及MRPI均显著低于其他组别。PSP组P/M、MCP/SCP及MRPI值均显著高于其他组别。MRPI在PSP与非PSP者中完全无重叠。ROC分析显示,当MRPI截断值为4.52时,鉴别PD和MSA-P的敏感性特异性分别为98.5%和61.9%。MRPI及P/M值鉴别PSP与非PSP的敏感性和特异性均可达100%。结论 MRI形态学测量能为PD、MSA和PSP鉴别诊断提供客观的量化依据。     

The final diagnoses of patients with clinically suspected atypical parkinsonian syndromes

We report on 189 patients who were evaluated for APS. Final diagnoses included 77 cases of PSP, 32 patients with MSA and 11 patients with CBS. 35 patients were diagnosed or confirmed with iPD, while in 26 cases a differentiation between iPD and APS could not be definitely made.     

Differences and similarities in the neuropsychological profile of dementia with Lewy bodies and Alzheimer's disease in the early stage

Excessive daytime sleepiness has been widely accepted as a common problem not only in Parkinson's disease (PD) but also in other related disorders. Lowered excretion of orexin A (hypocretin 1) into the cerebrospinal fluid (CSF) is known to play a pathological role in narcolepsy and secondary hypersomnia due to hypothalamic dysfunction. Although the levels of CSF orexin in PD have been previously examined, the results have been controversial, and no systematic investigation of CSF orexin excretion has been conducted on PD related disorders. In this study, orexin was measured in CSF collected by lumbar puncture in 62 patients with PD, 13 patients with dementia with Lewy bodies (DLB), 16 patients with progressive supranuclear palsy (PSP), and 7 patients with corticobasal degeneration (CBD). Levels of CSF orexin (mean ± SD pg/ml) were 302 ± 38 in PD, 297 ± 48 in DLB, 258 ± 37 in PSP, 246 ± 90 in CBD. The occurrence of low orexin levels (≤110pg/ml) was rare in both PD and DLB, and orexin levels were significantly lower in the PSP and CBD groups compared to PD (PSP: p < 0.001, CBD: p < 0.05). Orexin levels were inversely correlated with duration of morbidity in PSP but not in the other conditions studied. These findings suggest that loss of orexin neurons or impaired orexin neurotransmission might exist as a part of the neurodegeneration associated with advanced PSP with long duration of morbidity.     

Botulinum toxin treatment in atypical parkinsonian disorders associated with disabling focal dystonia

We investigated the efficacy of botulinum toxin A (BtxA) therapy in patients with atypical parkinsonian disorders (APD) exhibiting different types of disabling focal dystonia unresponsive to oral drug therapy. Eight patients with functionally disabling focal dystonia out of a series of 60 consecutive patients with APDs regularly treated at our outpatient movement disorders clinic were included. Patients were diagnosed according to established criteria and had disabling limb dystonia (n=4) or craniocervical dystonia (n=4) unresponsive to oral pharmacological treatment. Localization and dose of BtxA injections was determined individually based on clinical examination as well as EMG in patients with limb dystonia. BtxA reduced dystonic symptoms in all patients; only one developed a transient local side-effect. BtxA was particularly effective in the long-term treatment (up to 50 months) of blepharospasm associated with progressive supranuclear palsy (PSP). BtxA also alleviated PSP-associated retrocollis and orofacial dystonia with lower lip retraction associated with PSP and multiple system atrophy. BtxA treatment of limb dystonia in corticobasal degeneration (CBD) temporarily improved hand and arm function in early disease stages while treatment in advanced stages reduced pain, facilitated hygiene and prevented secondary contractures. Limb dystonia was also alleviated by BtxA therapy in one patient with neuronal multisystem degeneration of undetermined cause. The results suggest that BtxA therapy may represent an effective means of alleviating disabling focal dystonia in different APDs. Particularly in early stage APD with disabling limb dystonia local BtxA injections may result in functional improvement. Received: 14 March 2001, Accepted: 25 July 2001     

Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders.

As there are no biological markers for the antemortem diagnosis of degenerative parkinsonian disorders, diagnosis currently relies upon the presence and progression of clinical features and confirmation depends on neuropathology. Clinicopathologic studies have shown significant false-positive and false-negative rates for diagnosing these disorders, and misdiagnosis is especially common during the early stages of these diseases. It is important to establish a set of widely accepted diagnostic criteria for these disorders that may be applied and reproduced in a blinded fashion. This review summarizes the findings of the SIC Task Force for the study of diagnostic criteria for parkinsonian disorders in the areas of Parkinson's disease, dementia with Lewy bodies, progressive supranuclear palsy, multiple system atrophy, and corticobasal degeneration. In each of these areas, diagnosis continues to rest on clinical findings and the judicious use of ancillary studies.     

Comparison of dystonia between Parkinson's disease and atypical parkinsonism: The clinical usefulness of dystonia distribution and characteristics in the differential diagnosis of parkinsonism

Objective

Dystonia is occasionally found in patients with Parkinson's disease (PD) and atypical parkinsonisms. However, systematic comparative analysis of the association between dystonia and parkinsonism have seldom been reported. The goals of this study are to compare the clinical characteristics and distributions of dystonia between PD, multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).

Phenotypic similarities causing clinical misdiagnosis of pathologically-confirmed sporadic Creutzfeldt-Jakob disease as dementia with Lewy bodies

A patient fulfilling central, core and supportive clinical diagnostic criteria for dementia with Lewy bodies deteriorated rapidly in the absence of neuroleptic drug treatment, prompting suspicion of a diagnosis of sporadic Creutzfeldt-Jakob disease. At postmortem examination, the brain showed features typical of Creutzfeldt-Jakob disease of the MV1 subtype. We review the phenotypic overlap between dementia with Lewy bodies and Creutzfeldt-Jakob disease which may cause clinical misdiagnosis.     

Alpha-synuclein and the prion hypothesis in Parkinson's disease

Protein intracellular inclusions within the central nervous system are hallmarks of several progressive neurodegenerative disorders in man. The protein constituents of those deposits and the affected regions within the brain differ from one neurodegenerative disorder to another. Until recently, the vicious circle consisting of spread, seeded assembly and accumulation over time within the central nervous system of misfolded proteins aggregates was thought to be restricted to the prion protein PrP. Recent reports suggest that other protein aggregates spread and amplify within the central nervous system leading to distinct diseases. How alpha-synuclein protein assemblies traffic between cells, amplify by recruiting endogenous monomeric alpha-synuclein and cause distinct synucleinopathies is unclear. I review here the experimental evidence supporting the propagation of alpha-synuclein mega-dalton assemblies in a manner similar to prion protein aggregates. I also describe how alpha-synuclein aggregates. I also explain why the aggregation of alpha-synuclein may lead to distinct synucleinopathies.