Parkinsonism & related disorders最新文献_第10页

Disease-modifying therapy in GBA1-related Parkinson's disease: the type of variant matters gba1相关帕金森病的疾病改善治疗：变异的类型很重要

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-22 DOI: 10.1016/j.parkreldis.2025.107847

Fabiana Colucci , Emanuele Frattini , Alessio Di Fonzo , Roberto Cilia

引用次数: 0

Impact of Parkinson's disease diagnosis validity on the association with cancer: A systematic review and meta-analysis 帕金森病诊断有效性对癌症相关性的影响：系统回顾和荟萃分析

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-22 DOI: 10.1016/j.parkreldis.2025.107846

Ayla Mehdiyeva , Valtteri Kaasinen , Eetu Heervä , Jussi O.T. Sipilä

{"title":"Impact of Parkinson's disease diagnosis validity on the association with cancer: A systematic review and meta-analysis","authors":"Ayla Mehdiyeva , Valtteri Kaasinen , Eetu Heervä , Jussi O.T. Sipilä","doi":"10.1016/j.parkreldis.2025.107846","DOIUrl":"10.1016/j.parkreldis.2025.107846","url":null,"abstract":"<div><h3>Background</h3><div>Meta-analyses have reported lower cancer incidence in patients with Parkinson's disease (PD) compared to the general population but with considerable data heterogeneity.</div></div><div><h3>Objective</h3><div>To explore how the validity of the PD diagnoses is related to the association with cancer.</div></div><div><h3>Methods</h3><div>We conducted a systematic review and meta-analysis in which studies were stratified into groups based on the diagnostic validity of Parkinson's disease. Studies investigating mortality data and those examining cancer risk within certain genetic subgroups of PD were excluded.</div></div><div><h3>Results</h3><div>Thirty-four articles encompassing 533,102 patients with PD from 11 countries met the inclusion criteria. Stratified analyses revealed no association between PD and overall cancer risk preceding or following the PD diagnosis in studies using validated PD data. Studies utilizing less robust PD identification methods, the majority of which were cohort studies, demonstrated a neutral or decreased cancer risk among PD patients. In the studies with the most rigorous PD validation organ-specific analyses showed an increased risk of cutaneous melanoma but no decreased risk in any type of cancer. The positive association between PD and melanoma was more pronounced in the studies with more robust PD diagnosis validity.</div></div><div><h3>Conclusions</h3><div>The reported associations between PD and cancer are substantially influenced by the quality of PD data. Future investigations should concentrate on organ-specific cancers, instead of pooling cancers together, and use only PD cohorts with validated diagnosis.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"135 ","pages":"Article 107846"},"PeriodicalIF":3.1,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Plasma proteomic profiling reveals Parkinson's disease-associated proteins: A UK Biobank study 血浆蛋白质组学分析揭示帕金森病相关蛋白：英国生物银行研究

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-22 DOI: 10.1016/j.parkreldis.2025.107851

Xuehao Jiao , Yue Lu , Yuxin Huang , Jingjing Chen , Zhengsheng Gu , Xin Gao , Lei Yuan , Bingying Du , Xiaoying Bi

{"title":"Plasma proteomic profiling reveals Parkinson's disease-associated proteins: A UK Biobank study","authors":"Xuehao Jiao , Yue Lu , Yuxin Huang , Jingjing Chen , Zhengsheng Gu , Xin Gao , Lei Yuan , Bingying Du , Xiaoying Bi","doi":"10.1016/j.parkreldis.2025.107851","DOIUrl":"10.1016/j.parkreldis.2025.107851","url":null,"abstract":"<div><h3>Introduction</h3><div>The rapid advancement of proteomics has provided new insights into early detection and prediction of Parkinson's disease (PD), particularly in identifying risk factors for PD. This study aims to develop a proteomics-based model to predict the risk of PD in patients.</div></div><div><h3>Methods</h3><div>We analyzed data from the UK Biobank cohort, including 52,851 PD-free participants at baseline, with a median follow-up of 15.3 years and 811 newly diagnosed PD cases. A prospective proteomic analysis was conducted to assess the predictive value of 2,923 plasma proteins, and LightGBM models were used to calculate protein importance, followed by an evaluation of the proteins' predictive performance.</div></div><div><h3>Results</h3><div>The study found that higher levels of NEFL and MERTK were significantly associated with future PD events, while lower levels of ITGAV, BAG3, CLEC10A, ITGAM, HNMT, and TPK1 were identified as potential risk factors for PD. Notably, the axonal injury marker NEFL and the thiamine metabolism-related protein TPK1 ranked higher than other proteins in terms of importance. The combination of NEFL and TPK1 significantly enhanced the predictive accuracy of conventional clinical models, increasing the Area Under the Curve (AUC) of the full-cohort prediction model from 0.784 to 0.842 and the 5-year prediction model from 0.780 to 0.908.</div></div><div><h3>Conclusions</h3><div>This study provides a novel insight for screening high-risk PD populations and underscores the significant role of nutritional metabolism in PD development, offering valuable insights for precision prevention strategies.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"135 ","pages":"Article 107851"},"PeriodicalIF":3.1,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143883227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Apraxia of eyelid opening and the variable motor phenomenology of blepharospasm 开眼睑失用症与眼睑痉挛的可变运动现象

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-19 DOI: 10.1016/j.parkreldis.2025.107843

Antonella Muroni , Gina Ferrazzano , Vittorio Velucci , Daniele Belvisi , Angelo Fabio Gigante , Antonella Conte , Alfredo Berardelli , Giovanni Defazio

{"title":"Apraxia of eyelid opening and the variable motor phenomenology of blepharospasm","authors":"Antonella Muroni , Gina Ferrazzano , Vittorio Velucci , Daniele Belvisi , Angelo Fabio Gigante , Antonella Conte , Alfredo Berardelli , Giovanni Defazio","doi":"10.1016/j.parkreldis.2025.107843","DOIUrl":"10.1016/j.parkreldis.2025.107843","url":null,"abstract":"<div><div>Apraxia of eyelid opening (AEO) is characterized by a transient inability to initiate eyelid elevation following voluntary or involuntary closure, in the absence of visible contraction of the orbicularis oculi muscle. This condition is frequently associated with blepharospasm (BSP); however, the relationship between AEO and the variable motor presentations of BSP remains unknown.</div><div>In this study, we analyzed 104 patients with isolated, idiopathic, adult-onset BSP for the presence of AEO, the type of orbicularis oculi muscle spasms, and other relevant demographic and clinical characteristics. Comparison of patients with and without AEO revealed significant associations between AEO and the presence, frequency, and duration of prolonged (>3 s) orbicularis oculi spasms leading to complete eyelid closure. This finding was specific, as no association was observed between AEO and brief (<3 s) orbicularis oculi spasms. Additionally, no other demographic or clinical parameters were significantly associated with AEO in BSP patients.</div><div>We propose that AEO and BSP with prolonged spasms may share common pathophysiological mechanisms. This observation could have important therapeutic implications for the management of patients with AEO.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"135 ","pages":"Article 107843"},"PeriodicalIF":3.1,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143879070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Allogenic transplantation therapy of iPS cell-derived dopamine progenitors for Parkinson's disease –Current status of the Kyoto Trial and future perspectives– iPS细胞衍生的多巴胺祖细胞的同种异体移植治疗帕金森病——京都试验的现状和未来展望

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-19 DOI: 10.1016/j.parkreldis.2025.107833

Ryosuke Takahashi , Etsuro Nakanishi , Hodaka Yamakado , Nobukatsu Sawamoto , Jun Takahashi

{"title":"Allogenic transplantation therapy of iPS cell-derived dopamine progenitors for Parkinson's disease –Current status of the Kyoto Trial and future perspectives–","authors":"Ryosuke Takahashi , Etsuro Nakanishi , Hodaka Yamakado , Nobukatsu Sawamoto , Jun Takahashi","doi":"10.1016/j.parkreldis.2025.107833","DOIUrl":"10.1016/j.parkreldis.2025.107833","url":null,"abstract":"<div><div>Transplantation therapy using induced pluripotent stem cell (iPS) cell-derived dopamine (DA) progenitors for Parkinson's disease (PD) has attracted attention as an innovative treatment to restore DA neurons in PD, which leads to the improvement of motor disturbance. iPS cells are multipotent stem cells with very high proliferation activity, created by reprogramming mature somatic cells through the transduction of four transcription factors. Relative to fetal midbrain DA neurons, iPS cells have advantages in terms of ethical aspects and availability. On the other hand, the most serious concern associated with therapies with ES/iPS cells is the risk of tumor growth that is caused by the proliferation of undifferentiated ES/iPS cells. Human ES cells that differentiate into DA neurons have been shown to form teratomas. Another concern is graft-induced dyskinesia (GID). GID, which is likely caused by several factors including contamination with serotonergic neurons, developed in the recipients of fetal ventral midbrain (VM) in randomized controlled trials. To enrich the DA progenitor cells and eliminate unwanted cells, a protocol for sorting midbrain DA neurons with antibodies against CORIN, a marker for floor plates, was developed. CORIN-sorted dopamine progenitors were transplanted into the bilateral putamina of MPTP-treated Parkinson models of cynomolgus monkeys, resulting in 18F-DOPA PET-positive graft formation and motor improvement without tumor formation two years after the surgeries. Very recently, a phase I/II trial of iPSC-derived, CORIN-sorted dopaminergic cells for Parkinson's disease was completed (The Kyoto Trial) (Takahashi, 2020; Sawamoto et al., 2025) [1,2]. Based on the results of the trial, we would like to discuss the current status and future perspectives of iPS cell therapy for PD.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"135 ","pages":"Article 107833"},"PeriodicalIF":3.1,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Other clinical uses for apomorphine: Sedation and sleep disorders, withdrawal of oral dopaminergic medication, palliative care, restless legs syndrome, traumatic brain injury, sexual dysfunction. 阿波啡的其他临床用途：镇静和睡眠障碍，口服多巴胺能药物的戒断，姑息治疗，不宁腿综合征，创伤性脑损伤，性功能障碍。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-18 DOI: 10.1016/j.parkreldis.2025.107837

Marc Vérin, Manon Auffret

引用次数: 0

Successful rescue of severe cervical dystonia by electrophysiologic mapping to optimize botulinum neurotoxin treatment in Ireland 通过电生理定位优化肉毒杆菌神经毒素治疗在爱尔兰成功抢救严重颈肌张力障碍

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-17 DOI: 10.1016/j.parkreldis.2025.107453

T. Tse , F. Molloy , E. McGovern , A. Whelehan , A. Hassan

引用次数: 0

Sustained chorea improvements with long-term, once-daily valbenazine in adults with Huntington’s disease 成年亨廷顿舞蹈病患者长期每日服用一次缬那嗪可持续改善舞蹈病

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-17 DOI: 10.1016/j.parkreldis.2025.107440

E. Furr Stimming , D.O. Claassen , E. Kayson , R. Mehanna , S. Karpuram , J. Goldstein , S.C. Hinton , O. Klepitskaya , H. Zhang , E. Dunayevich , G. Liang , D. Haubenberger , Huntington Study Group® KINECT®-HD2 Investigators and Coordinators

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Hypocalcaemia-induced fluctuating chorea in a patient with iatrogenic hypoparathyroidism: a case report 医源性甲状旁腺功能减退患者低钙诱导的波动性舞蹈病1例报告

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-17 DOI: 10.1016/j.parkreldis.2025.107444

F.P. Mazzeo , V. Velucci , S. Idrissi , B. Vitucci , F. Oggiano , T. Giannelli , G. Defazio , G. Iliceto

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Differences in the Prevalence of Sleep Fragmentation and Other Baseline Sleep Characteristics in Genetic PD Subgroups 遗传PD亚群中睡眠片段化发生率和其他基线睡眠特征的差异

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2025-04-17 DOI: 10.1016/j.parkreldis.2025.107409

M. Yang , A. Astefanous , D. Raymond , M. Rawal , A. Cohen , B. Plitnick , C. Young , V. Katsnelson , K. Leaver , S. Bressman , M.G. Figueiro , R. Saunders-Pullman , A. Wise

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