【摘要】 目的 研究不同亚型多系统萎缩（multiple system atrophy，MSA）患者的临床特点。 方法 回顾分析2009年1月—2011年1月收治的105例“很可能的”MSA患者的临床资料，包括发病年龄、首发症状、临床表现、治疗反应性等。 结果 105例MSA患者中，男57例，女48例，发病年龄58岁。以小脑性共济失调为主要特点的MSA（MSA with predominant cerebellar ataxia，MSA-C）患者76例，以帕金森综合征为主要特点的多系统萎缩（MSA with predominant parkinsonism，MSA-P）患者29例。39例患者仅以小脑功能障碍为首发症状；29例患者仅以帕金森综合征为首发症状，23例患者仅以自主神经功能障碍为首发症状，其余14例患者的首发表现至少包括2种症状组合。至最后一次随访时，54例患者同时存在小脑功能障碍、帕金森综合征、自主神经功能障碍和锥体束征，51例患者表现为自主神经功能障碍与小脑功能障碍和（或）帕金森综合征的不同形式的组合。 结论 MSA患者以MSA-C为主。由于在病程早期，MSA与其他帕金森综合征或小脑性共济失调疾病的鉴别较为困难，因此，仔细动态观察患者临床特点的演变情况，对MSA的诊断至关重要。【Abstract】 Objective To investigate subtypes and clinical features of multiple system atrophy (MSA). Methods The clinical data of 105 probable MSA patients treated in our hospital from January 2009 to January 2011 were analyzed, including the age at onset, initial symptoms, clinical manifestations and responsivity to levodopa. Results The 105 probable MSA patients consisted of 57 males and 48 females, including 76 patients (72.4%) of MSA with predominant cerebellar ataxia (MSA-C) and 29 patients (27.6%) of MSA with predominant parkinsonism (MSA-P). The mean age at onset was 58 years. The initial symptom of 39 patients was pure cerebellar dysfunction. Twenty-nine patients presented pure parkinsonism as the initial symptom. The initial symptom of 23 patients was pure dysautonomia. By the last clinical visit, 54 patients had cerebellar dysfunction, parkinsonism, autonomic failure and pyramidal signs. Conclusion The study revealed a predominance of MSA-C patients. The differentiation of MSA and other forms of parkinsonism or cerebellar ataxia may be difficult at the early stage. For more accurate diagnosis, it is important to carefully observe the clinical progression.
Huntington’s disease (HD) is characterized by chorea, cognitive impairment, and psychiatric symptoms. Sleep and circadian rhythm disturbances are one of the important symptoms of HD that have been gradually recognized in recent years, and have a serious impact on the quality of life of patients and their caregivers. The clinical manifestations of sleep and circadian rhythm disturbances in HD are different from those of other neurodegenerative diseases. The exact pathological mechanisms of these disturbances remain unclear and there is no specific treatment. This article reviews the current progress in the study of sleep and circadian rhythm disturbances in HD, including its pathological mechanisms, clinical manifestations, assessment methods, correlation with cognitive impairment and psychiatric symptoms, treatment and management.
Objective To assess the changes in depression symptoms in patients with Parkinson’s disease (PD) receiving combined treatment of deep brain stimulation (DBS) and antiparkinsonian drug therapy (DT) compared with under DT alone. Methods Related literature was retrieved from electronic databases, including PubMed, Cochrane Library, Embase, China National Knowledge Infrastructure, Wanfang Data, and VIP databases. Stata 14.0 software was used for statistical analysis. Network meta-analysis was performed using frequentist model to compare different interventions with each other. Results Five cohort studies and seven randomized controlled trials (RCTs) were included. The total number of participants was 1241. Assessed by the Beck Depression Inventory (BDI) score as the primary outcome, patients who received DT alone showed worse outcome in depression as compared to those who received subthalamic nucleus (STN)-DBS plus DT [standardized mean difference (SMD)=0.30, 95% confidence interval (CI) (0.01, 0.59), P<0.05], and there was no significant difference between the patients receiving globus pallidus interna (GPi)-DBS plus DT and those receiving STN-DBS plus DT [SMD=–0.12, 95%CI (–0.41, 0.16), P>0.05] or those receiving DT alone [SMD=–0.42, 95%CI (–0.84, 0.00), P>0.05]. Assessed by BDI-Ⅱ as the primary outcome, patients who received DT alone showed worse outcome in depression than those who received STN-DBS plus DT [SMD=0.29, 95%CI (0.05, 0.54), P<0.05]; compared with STN-DBS plus DT and DT alone, GPi-DBS plus DT was associated with better improvement in depression [SMD=–0.26, 95%CI (–0.46, –0.06), P<0.05; SMD=–0.55, 95%CI (–0.88, –0.23), P<0.05]. The ranking results of surface under the cumulative ranking curves showed that DBS plus DT had a better superiority in depression symptoms, and GPi-DBS was better than STN-DBS. Conclusion Compared with DT, STN-DBS plus DT is more likely to improve the depressive symptoms of PD patients, and GPi-DBS may be better than STN-DBS.
【摘要】 目的 探讨佛波酯激活的蛋白激酶C与扭转蛋白A在亚细胞成分中的表达之间的关系。 方法 采用免疫荧光法观察扭转蛋白A在原代培养的神经元和小鼠胚胎成纤维细胞（NIH 3T3细胞）中的分布。运用蛋白质印迹法分析蛋白激酶C和扭转蛋白A在细亚细胞成分中的表达。 结果 扭转蛋白A在NIH 3T3细胞中的表达类似于神经元。扭转蛋白A在细胞质溶质、膜成分中均有分布。佛波酯活化蛋白激酶C后并不引起扭转蛋白A在细胞质成分和膜成分中表达含量的变化。 结论 扭转蛋白A可能是膜相关蛋白，细胞氧化应激中扭转蛋白A表达上调和重分布变化不是由佛波酯诱导的蛋白激酶C活化途径来实现的。鉴于扭转蛋白A表达上调具有潜在的治疗原发性早发扭转性肌张力障碍的前景，影响其分布和表达的分子机制需要进一步研究。【Abstract】 Objective To investigate the relationship between the phorbol 12-myristate 13-acetate (PMA) activated protein kinase C (PKC) and the subcellular expression of TorsinA protein. Methods The expression of TorsinA in the primary cultured neurons and the NIH 3T3 cells was detected by immunofluorescence. The expression of PKC and TorsinA in subcellular fraction was analyzed by the western blotting. Results The expression pattern of TorsinA in NIH 3T3 cells was similar to neuron. PMA, an activator of PKC, did not promote the up-expression of TorsinA or redistribution in the subcellular fraction of NIH 3T3 cells. Conclusions TorsinA may be a membrane-associated protein. The up-regulation and redistribution of TorsinA is not caused by the pathway of the PMA activating PKC after cells insulted by oxidative stress. We should pay more attention on the mechanisms of the expression of TorsinA protein for the potential therapies to early-onset primary torsion dystonia (DYT1).