Parkinsonism & related disorders最新文献

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Striatal dopaminergic depletion was associated with motor subtype conversion in Parkinson's disease 纹状体多巴胺能耗竭与帕金森病的运动亚型转换有关
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-23 DOI: 10.1016/j.parkreldis.2025.107807
Shuai Chen , Jing-Yu Shao , Hong-Qi Yang, Xiao Liu, Jie-Wen Zhang
{"title":"Striatal dopaminergic depletion was associated with motor subtype conversion in Parkinson's disease","authors":"Shuai Chen ,&nbsp;Jing-Yu Shao ,&nbsp;Hong-Qi Yang,&nbsp;Xiao Liu,&nbsp;Jie-Wen Zhang","doi":"10.1016/j.parkreldis.2025.107807","DOIUrl":"10.1016/j.parkreldis.2025.107807","url":null,"abstract":"<div><h3>Background</h3><div>The instability of classical Parkinson's disease (PD) motor subtypes over the disease course suggests that motor subtype is influenced by disease severity. Tremor-dominant (TD) PD is susceptible to conversion to non-tremor-dominant (NTD) PD, with the risk increasing over time. This study investigates whether presynaptic striatal dopaminergic loss can predict the conversion from TD-PD to NTD-PD.</div></div><div><h3>Methods</h3><div>A total of 220 early TD-PD patients with baseline Dopamine Transporter Single-Photon Emission Computed Tomography (DAT-SPECT) data from the Parkinson's Progression Markers Initiative (PPMI) database were included. Patients were divided into high and low DAT uptake groups based on the median baseline striatal DAT uptake value. The Kaplan-Meier survival curve was used to compare the conversion rates of TD-PD subtype between the two groups. Multivariable Cox regression was used to further analyze the relationship between baseline striatal DAT uptake and TD-PD subtype conversion.</div></div><div><h3>Results</h3><div>The risk of conversion from TD to NTD was higher in the low striatal DAT group. In the multivariable Cox regression analysis, after adjusting for age, sex, baseline disease duration, MDS-UPDRS-II score and GDS score, the baseline striatal DAT uptake value was significantly associated with the conversion of TD-PD (<em>HR</em> = 0.39; 95 % <em>CI</em> 0.22–0.68; <em>P</em> = 0.001). In the stratified analysis, this association was not influenced by baseline TD or PIGD score.</div></div><div><h3>Conclusions</h3><div>In early-stage TD-PD, a high baseline presynaptic striatal dopaminergic reserve reduces the risk of future conversion to NTD-PD. This supports the notion that classical motor subtypes may reflect the disease stage or severity.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"135 ","pages":"Article 107807"},"PeriodicalIF":3.1,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143777580","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
Corrigendum to “Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders” [Parkinson. Relat. Disord. (2025) 133 107319]
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-23 DOI: 10.1016/j.parkreldis.2025.107795
Antonia M. Stehr , Jan Fischer , Nazanin Mirza-Schreiber , Katerina Bernardi , Joseph Porrmann , Philip Harrer , Frank Kaiser , Rami Abou Jamra , Juliane Winkelmann , Robert Jech , Anne Koy , Konrad Oexle , Michael Zech
{"title":"Corrigendum to “Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders” [Parkinson. Relat. Disord. (2025) 133 107319]","authors":"Antonia M. Stehr ,&nbsp;Jan Fischer ,&nbsp;Nazanin Mirza-Schreiber ,&nbsp;Katerina Bernardi ,&nbsp;Joseph Porrmann ,&nbsp;Philip Harrer ,&nbsp;Frank Kaiser ,&nbsp;Rami Abou Jamra ,&nbsp;Juliane Winkelmann ,&nbsp;Robert Jech ,&nbsp;Anne Koy ,&nbsp;Konrad Oexle ,&nbsp;Michael Zech","doi":"10.1016/j.parkreldis.2025.107795","DOIUrl":"10.1016/j.parkreldis.2025.107795","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107795"},"PeriodicalIF":3.1,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitochondrial and autophagic dysfunctions of skin fibroblasts derived from pantothenate kinase-associated neurodegeneration patients carrying PANK2 mutations and the rescuing effects of allantoin
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-23 DOI: 10.1016/j.parkreldis.2025.107806
Junge Zhu , Tingyan Yao , Chaodong Wang
{"title":"Mitochondrial and autophagic dysfunctions of skin fibroblasts derived from pantothenate kinase-associated neurodegeneration patients carrying PANK2 mutations and the rescuing effects of allantoin","authors":"Junge Zhu ,&nbsp;Tingyan Yao ,&nbsp;Chaodong Wang","doi":"10.1016/j.parkreldis.2025.107806","DOIUrl":"10.1016/j.parkreldis.2025.107806","url":null,"abstract":"<div><h3>Introduction</h3><div>Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative disorder marked by brain iron accumulation and mitochondrial dysfunction, with limited effective treatments. This study investigates cellular dysfunctions in PKAN fibroblasts with PANK2 mutations and evaluates the therapeutic potential of the antioxidant allantoin for protecting mitochondrial and autophagic functions.</div></div><div><h3>Methods</h3><div>We investigated oxidative stress, mitochondrial impairment, and autophagic dysfunction in skin fibroblasts derived from PKAN patients carrying mutations in the PANK2 gene and siR-<em>pank2</em> treated fibroblasts, and evaluates the therapeutic potential of allantoin in mitigating these defects.</div></div><div><h3>Results</h3><div>Our results revealed significantly elevated levels of H<sub>2</sub>O<sub>2</sub> and an increased mitochondrial labile iron pool (LIP), also reduced aconitase 2 (ACO2) activity and mitochondrial membrane potential, suggesting heightened oxidative stress and mitochondrial dysfunction. Autophagic flux was also impaired, as evidenced by the increased LC3-II and p62 accumulation. Allantoin treatment significantly reduced intracellular iron deposition and lipid peroxidation in PANK2-deficient fibroblasts. LIP levels were decreased, and ACO2 activity was elevated in allantoin-treated PANK2 mutant fibroblasts and siRNA-<em>pank2</em> fibroblasts. Additionally, allantoin treatment promoted autophagic flux by reducing LC3-II and p62 levels.</div></div><div><h3>Conclusion</h3><div>These findings highlight the key pathological effect of oxidative stress, mitochondrial dysfunction and impaired autophagy in PKAN and suggest a protective role of allantoin in iron deposition via dual regulation of mitochondrial dysfunction and compromised autophagy. The data provides a foundation for future <em>in vivo</em> studies and the potential clinical application of allantoin in PKAN and related neurodegenerative diseases.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107806"},"PeriodicalIF":3.1,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143697280","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
Authors' reply to "Comment on Chaparro-Solano et al.: 'Critical evaluation of the current landscape of pharmacogenomics in Parkinson's disease - What is missing? A systematic review'".
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-20 DOI: 10.1016/j.parkreldis.2025.107804
Henry Mauricio Chaparro-Solano, Ignacio F Mata
{"title":"Authors' reply to \"Comment on Chaparro-Solano et al.: 'Critical evaluation of the current landscape of pharmacogenomics in Parkinson's disease - What is missing? A systematic review'\".","authors":"Henry Mauricio Chaparro-Solano, Ignacio F Mata","doi":"10.1016/j.parkreldis.2025.107804","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107804","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107804"},"PeriodicalIF":3.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743751","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
Effect of trunk-centered rehabilitation program associated with specific brace in Parkinsonian with low back pain: A 6-year follow-up case report
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-19 DOI: 10.1016/j.parkreldis.2025.107802
Romain David , Maxime Billot , Hélène Cassoudesalle , Patrick Dehail , Bertrand Glize , Maxence Compagnat , Mathieu de Sèze
{"title":"Effect of trunk-centered rehabilitation program associated with specific brace in Parkinsonian with low back pain: A 6-year follow-up case report","authors":"Romain David ,&nbsp;Maxime Billot ,&nbsp;Hélène Cassoudesalle ,&nbsp;Patrick Dehail ,&nbsp;Bertrand Glize ,&nbsp;Maxence Compagnat ,&nbsp;Mathieu de Sèze","doi":"10.1016/j.parkreldis.2025.107802","DOIUrl":"10.1016/j.parkreldis.2025.107802","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107802"},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143697281","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
Concerns regarding the inclusion of a preprint in a meta-analysis on GLP-1 agonists in Parkinson's Disease.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-19 DOI: 10.1016/j.parkreldis.2025.107798
Mickael Aubignat
{"title":"Concerns regarding the inclusion of a preprint in a meta-analysis on GLP-1 agonists in Parkinson's Disease.","authors":"Mickael Aubignat","doi":"10.1016/j.parkreldis.2025.107798","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107798","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107798"},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693105","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
The effects of stretching in Parkinson's disease: A systematic review of randomized controlled trials.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-19 DOI: 10.1016/j.parkreldis.2025.107796
Iratxe Duñabeitia, Daniel González-Devesa, Nerea Blanco-Martínez, Carlos Ayán-Pérez
{"title":"The effects of stretching in Parkinson's disease: A systematic review of randomized controlled trials.","authors":"Iratxe Duñabeitia, Daniel González-Devesa, Nerea Blanco-Martínez, Carlos Ayán-Pérez","doi":"10.1016/j.parkreldis.2025.107796","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107796","url":null,"abstract":"<p><strong>Introduction: </strong>Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and non-motor symptoms. While incurable, exercise has shown therapeutic benefits. Stretching, an accessible and low-cost modality, may improve mobility, balance, and flexibility, warranting systematic evaluation for managing PD symptoms. This systematic review aimed to examine and critically analyze scientific evidence on the effects of stretching in people with Parkinson's disease.</p><p><strong>Methods: </strong>A search was conducted in four electronic databases (Scopus, Web of Science, PEDro, and MEDLINE/PubMed) from inception to November 2024. The methodological quality of included studies was assessed using the PEDro scale.</p><p><strong>Results: </strong>Twelve randomized controlled trials were analyzed. Stretching programs lasted 4 weeks to 6 months. Positive effects were observed in motor symptoms and functional mobility for people with PD, although these were generally less pronounced compared to interventions like Tai Chi or WuQinXi Qigong. In contrast, mixed results to no significant improvements were observed for balance, gait, strength, cardiorespiratory fitness, mental health, neurocognitive function, sleep quality, physical activity levels, and fatigue.</p><p><strong>Conclusion: </strong>Stretching improves motor symptoms and mobility in people with PD, but its benefits for gait, motor function, and mental health are limited compared to other exercises. Further studies are needed to assess its impact on motor and neurocognitive functions.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107796"},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693108","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
Complementary insights on mild cognitive impairment in patients with essential tremor.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-19 DOI: 10.1016/j.parkreldis.2025.107800
Qiu-Han Xu, Yi-Ling Wang, Bao-Rong Zhang, Jun Tian
{"title":"Complementary insights on mild cognitive impairment in patients with essential tremor.","authors":"Qiu-Han Xu, Yi-Ling Wang, Bao-Rong Zhang, Jun Tian","doi":"10.1016/j.parkreldis.2025.107800","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107800","url":null,"abstract":"<p><p>Essential tremor (ET) has been implicated in cognitive dysfunction, yet causality remains unclear. Using Mendelian randomization, we reveal no direct genetic link between ET and dementia subtypes, suggesting shared environmental or neurodegenerative factors. These findings underscore the importance of integrative methodologies to dissect the complex interplay between ET and cognition.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107800"},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710814","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
Revisiting the association between REM sleep behavior disorder and Parkinson's disease progression.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-19 DOI: 10.1016/j.parkreldis.2025.107801
Xin-Tao Wu, Qiu-Han Xu
{"title":"Revisiting the association between REM sleep behavior disorder and Parkinson's disease progression.","authors":"Xin-Tao Wu, Qiu-Han Xu","doi":"10.1016/j.parkreldis.2025.107801","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107801","url":null,"abstract":"<p><p>This study challenges the assumption that REM sleep behavior disorder (RBD) is a marker of severe Parkinson's disease (PD) progression. Using two-sample Mendelian randomization, we found no causal link between PD progression and RBD. Interestingly, RBD exhibited a potential protective effect on motor and composite PD progression, warranting further investigation.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107801"},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721051","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
GLP-1 receptor expression and Parkinson's disease: Reassessing the link.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-19 DOI: 10.1016/j.parkreldis.2025.107799
Qiu-Han Xu, Cheng Wang
{"title":"GLP-1 receptor expression and Parkinson's disease: Reassessing the link.","authors":"Qiu-Han Xu, Cheng Wang","doi":"10.1016/j.parkreldis.2025.107799","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107799","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107799"},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721048","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
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