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.
The translation and translation regulation of RNA in eukaryotic cells have a significant impact on cellular gene expression and maintenance of proteomic homeostasis. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects upper and lower motor neurons and leads to muscle weakness and atrophy. More and more studies have found RNA translation abnormalities in ALS. This article provides an overview of RNA translation and regulation in eukaryotic cells under physiological and stress conditions, and explores the relationship between four different ALS-related genes and translation abnormalities, providing new ideas for the treatment of ALS.
【摘要】 目的 研究不同亞型多系統萎縮（multiple system atrophy，MSA）患者的臨床特點。 方法 回顧分析2009年1月—2011年1月收治的105例“很可能的”MSA患者的臨床資料，包括發病年齡、首發癥狀、臨床表現、治療反應性等。 結果 105例MSA患者中，男57例，女48例，發病年齡58歲。以小腦性共濟失調為主要特點的MSA（MSA with predominant cerebellar ataxia，MSA-C）患者76例，以帕金森綜合征為主要特點的多系統萎縮（MSA with predominant parkinsonism，MSA-P）患者29例。39例患者僅以小腦功能障礙為首發癥狀；29例患者僅以帕金森綜合征為首發癥狀，23例患者僅以自主神經功能障礙為首發癥狀，其余14例患者的首發表現至少包括2種癥狀組合。至最后一次隨訪時，54例患者同時存在小腦功能障礙、帕金森綜合征、自主神經功能障礙和錐體束征，51例患者表現為自主神經功能障礙與小腦功能障礙和（或）帕金森綜合征的不同形式的組合。 結論 MSA患者以MSA-C為主。由于在病程早期，MSA與其他帕金森綜合征或小腦性共濟失調疾病的鑒別較為困難，因此，仔細動態觀察患者臨床特點的演變情況，對MSA的診斷至關重要。【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.
【摘要】 目的 探討佛波酯激活的蛋白激酶C與扭轉蛋白A在亞細胞成分中的表達之間的關系。 方法 采用免疫熒光法觀察扭轉蛋白A在原代培養的神經元和小鼠胚胎成纖維細胞（NIH 3T3細胞）中的分布。運用蛋白質印跡法分析蛋白激酶C和扭轉蛋白A在細亞細胞成分中的表達。 結果 扭轉蛋白A在NIH 3T3細胞中的表達類似于神經元。扭轉蛋白A在細胞質溶質、膜成分中均有分布。佛波酯活化蛋白激酶C后并不引起扭轉蛋白A在細胞質成分和膜成分中表達含量的變化。 結論 扭轉蛋白A可能是膜相關蛋白，細胞氧化應激中扭轉蛋白A表達上調和重分布變化不是由佛波酯誘導的蛋白激酶C活化途徑來實現的。鑒于扭轉蛋白A表達上調具有潛在的治療原發性早發扭轉性肌張力障礙的前景，影響其分布和表達的分子機制需要進一步研究。【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).