NPJ Parkinson's Disease最新文献_第3页

Will adaptive deep brain stimulation for Parkinson’s disease become a real option soon? A Delphi consensus study 适应性深部脑刺激治疗帕金森氏症会很快成为一种真正的选择吗？德尔菲共识研究

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-05-05 DOI: 10.1038/s41531-025-00974-5

Matteo Guidetti, Tommaso Bocci, Marta De Pedro Del Álamo, Guenther Deuschl, Alfonso Fasano, Raul Martinez-Fernandez, Carmen Gasca-Salas, Clement Hamani, Joachim K. Krauss, Andrea A. Kühn, Patricia Limousin, Simon Little, Andres M. Lozano, Natale V. Maiorana, Sara Marceglia, Michael S. Okun, Serena Oliveri, Jill L. Ostrem, Emma Scelzo, Alfons Schnitzler, Philip A. Starr, Yasin Temel, Lars Timmermann, Gerd Tinkhauser, Veerle Visser-Vandewalle, Jens Volkmann, Alberto Priori

{"title":"Will adaptive deep brain stimulation for Parkinson’s disease become a real option soon? A Delphi consensus study","authors":"Matteo Guidetti, Tommaso Bocci, Marta De Pedro Del Álamo, Guenther Deuschl, Alfonso Fasano, Raul Martinez-Fernandez, Carmen Gasca-Salas, Clement Hamani, Joachim K. Krauss, Andrea A. Kühn, Patricia Limousin, Simon Little, Andres M. Lozano, Natale V. Maiorana, Sara Marceglia, Michael S. Okun, Serena Oliveri, Jill L. Ostrem, Emma Scelzo, Alfons Schnitzler, Philip A. Starr, Yasin Temel, Lars Timmermann, Gerd Tinkhauser, Veerle Visser-Vandewalle, Jens Volkmann, Alberto Priori","doi":"10.1038/s41531-025-00974-5","DOIUrl":"https://doi.org/10.1038/s41531-025-00974-5","url":null,"abstract":"While conventional deep brain stimulation (cDBS) treatment delivers continuous electrical stimuli, new adaptive DBS (aDBS) technology provides dynamic symptom-related stimulation. Research data are promising, and devices are already available, but are we ready for it? We asked leading DBS experts worldwide (n = 21) to discuss a research agenda for aDBS research in the near future to allow full adoption. A 5-point Likert scale questionnaire, along with a Delphi method, was employed. In the next 10 years, aDBS will be clinical routine, but research is needed to define which patients would benefit more from the treatment; second, implantation and programming procedures should be simplified to allow actual generalized adoption; third, new adaptive algorithms, and the integration of aDBS paradigm with new technologies, will improve control of more complex symptoms. Since the next years will be crucial for aDBS implementation, the research should focus on improving precision and making programming procedures more accessible.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"18 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143909983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

New insights into pathogenisis and therapies of P2X7R in Parkinson’s disease P2X7R在帕金森病发病机制和治疗中的新见解

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-05-05 DOI: 10.1038/s41531-025-00980-7

Shizhuang Wei, Xiaoyu Song, Yakui Mou, Ting Yang, Yao Wang, Hanrui Wang, Chao Ren, Xicheng Song

引用次数: 0

Comparison of oscillatory activity in substantia nigra pars reticulata between Parkinson’s disease and dystonia 帕金森病与肌张力障碍黑质网状部振荡活动的比较

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-05-05 DOI: 10.1038/s41531-025-00947-8

Lin Shi, Yichen Xu, Shiying Fan, Zixiao Yin, Guofan Qin, Jianguo Zhang, Anchao Yang

引用次数: 0

Smartphone-derived multidomain features including voice, finger-tapping movement and gait aid early identification of Parkinson’s disease 智能手机衍生的多领域特征，包括语音、手指敲击运动和步态，有助于帕金森病的早期识别

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-05-05 DOI: 10.1038/s41531-025-00953-w

Wee-Shin Lim, Sung-Pin Fan, Shu-I Chiu, Meng-Ciao Wu, Pu-He Wang, Kun-Pei Lin, Yung-Ming Chen, Pei-Ling Peng, Jyh-Shing Roger Jang, Chin-Hsien Lin

{"title":"Smartphone-derived multidomain features including voice, finger-tapping movement and gait aid early identification of Parkinson’s disease","authors":"Wee-Shin Lim, Sung-Pin Fan, Shu-I Chiu, Meng-Ciao Wu, Pu-He Wang, Kun-Pei Lin, Yung-Ming Chen, Pei-Ling Peng, Jyh-Shing Roger Jang, Chin-Hsien Lin","doi":"10.1038/s41531-025-00953-w","DOIUrl":"https://doi.org/10.1038/s41531-025-00953-w","url":null,"abstract":"Smart devices can easily capture changes in voice, movements, and gait in people with Parkinson’s disease (PD). We investigated whether smartphone-derived multimodal features combined with machine learning algorithms can aid in early PD identification. We recruited 496 participants, split into a training cohort (127 PD patients during “on” phase and 198 age-matched controls) and a test dataset (86 patients during “off” phase and 85 age-matched controls). Multidomain features from smartphone recordings were analyzed using machine learning classifiers with integration of a hyperparameter grid. Single-modality models for voice, hand movements, and gait showed diagnostic values of 0.88, 0.74, and 0.81, respectively, with test dataset values of 0.80, 0.74, and 0.76. An integrated multimodal model using a support vector machine improved performance to 0.86 and achieved 0.82 for identifying early-stage PD during the “off” phase. A smartphone-based integrated multimodality model combining voice, hand movement, and gait shows promise for early PD identification.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"12 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143909705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants 伴有和不伴有GBA1变异的PD之间CSF α -突触核蛋白种子的年龄相关分布和阿尔茨海默病谱的差异

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-05-05 DOI: 10.1038/s41531-025-00978-1

Stefanie Lerche, Isabel Wurster, Benjamin Roeben, Milan Zimmermann, Marcello Rossi, Angela Mammana, Simone Baiardi, Ann‑Kathrin Hauser, Christian Deuschle, Claudia Schulte, Piero Parchi, Kathrin Brockmann

引用次数: 0

Emergent glutamate & dopamine dysfunction in VPS35(D620N) knock-in mice and rapid reversal by LRRK2 inhibition VPS35（D620N）敲入小鼠出现谷氨酸和多巴胺功能障碍及LRRK2抑制的快速逆转

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-05-03 DOI: 10.1038/s41531-025-00948-7

A. Kamesh, C. A. Kadgien, N. Kuhlmann, S. Coady, A. Pietrantonio, Y. Cousineau, A. Khayachi, A. Jurado Santos, E. P. Hurley, J. C. Barron, M. P. Parsons, A. J. Milnerwood

{"title":"Emergent glutamate & dopamine dysfunction in VPS35(D620N) knock-in mice and rapid reversal by LRRK2 inhibition","authors":"A. Kamesh, C. A. Kadgien, N. Kuhlmann, S. Coady, A. Pietrantonio, Y. Cousineau, A. Khayachi, A. Jurado Santos, E. P. Hurley, J. C. Barron, M. P. Parsons, A. J. Milnerwood","doi":"10.1038/s41531-025-00948-7","DOIUrl":"https://doi.org/10.1038/s41531-025-00948-7","url":null,"abstract":"The D620N variant in Vacuolar Protein Sorting 35 (VPS35) causes autosomal-dominant, late-onset Parkinson’s disease. VPS35 is a core subunit of the retromer complex that canonically recycles transmembrane cargo from sorting endosomes. Although retromer cargoes include many synaptic proteins, VPS35’s neuronal functions are poorly understood. To investigate the consequences of the Parkinson’s mutation, striatal neurotransmission was assessed in 1- to 6-month-old VPS35 D620N knock-in (VKI) mice. Spontaneous and optogenetically-evoked corticostriatal glutamate transmission was increased in VKI spiny projection neurons by 6 months and was unaffected by acute leucine-rich repeat kinase 2 (LRRK2) inhibition. Total striatal glutamate release by iGluSnFR imaging was similar to wild-type. dLight imaging revealed robust increases in VKI striatal dopamine release by 6 months, which were reversed with acute LRRK2 kinase inhibition. We conclude that increased striatal neurotransmission in VKI mice progressively emerges in young-adulthood, and that dopamine dysfunction is likely the result of sustained, rapidly-reversible, LRRK2 hyperactivity.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"58 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143903121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Automatic speech analysis combined with machine learning reliably predicts the motor state in people with Parkinson’s disease 结合机器学习的自动语音分析可以可靠地预测帕金森病患者的运动状态

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-05-02 DOI: 10.1038/s41531-025-00959-4

Tabea Thies, Elisa Mallick, Johannes Tröger, Ebru Baykara, Doris Mücke, Michael T. Barbe

{"title":"Automatic speech analysis combined with machine learning reliably predicts the motor state in people with Parkinson’s disease","authors":"Tabea Thies, Elisa Mallick, Johannes Tröger, Ebru Baykara, Doris Mücke, Michael T. Barbe","doi":"10.1038/s41531-025-00959-4","DOIUrl":"https://doi.org/10.1038/s41531-025-00959-4","url":null,"abstract":"It is still under debate whether levodopa treatment improves speech functions in Parkinson’s disease (PD). Therefore, speech functions of people with PD were compared in medication-OFF condition (withdrawal of PD medication for at least 12 h) and medication-ON condition (after receiving 200 mg of soluble levodopa). A total of 78 participants, including 51 males and 27 females, performed predefined standard speech tasks. Acoustic speech features were automatically extracted with the algorithm given by the Dysarthria Analyzer. Results suggest that acute levodopa intake improves phonatory-respiratory speech functions and speech planning abilities, while the articulatory system remains unaffected. Furthermore, the study provided preliminary evidence that speech function is able to predict the medication status in individuals with PD as the constructed speech-based biomarker score did not only correlate with established measures of (speech) motor impairment but could also differentiate between the medication OFF and ON status. A post-hoc machine learning model yielded similar results.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"8 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143901268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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 diagnostic pathway of Parkinson’s disease: understanding patient perspectives in Australia 帕金森病的诊断途径：了解澳大利亚患者的观点

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-04-30 DOI: 10.1038/s41531-025-00968-3

Tali Lang, Iain McLean, Jenna Shin, Victoria Jackson, Isobel Lawrenson, Belinda Zipper, Alex Yeung, Andrew Evans, Grant Dewson

{"title":"The diagnostic pathway of Parkinson’s disease: understanding patient perspectives in Australia","authors":"Tali Lang, Iain McLean, Jenna Shin, Victoria Jackson, Isobel Lawrenson, Belinda Zipper, Alex Yeung, Andrew Evans, Grant Dewson","doi":"10.1038/s41531-025-00968-3","DOIUrl":"https://doi.org/10.1038/s41531-025-00968-3","url":null,"abstract":"There is limited data about experiences of people with Parkinson’s (PwP) in Australia. This study, initiated and co-designed by PwP, surveyed 385 participants nationally (335 fully completed the questionnaire). Participants living in capital and regional city centers reported satisfaction with clinical care during diagnostic consultation at approximately 40%, with satisfaction less in rural areas (26%). 68% of participants reported inadequate involvement in discussions about treatment and care planning and 77% were dissatisfied with the support following diagnosis. Respondents reported low referral rates to allied health services such as physiotherapy (22%) and mental health services (17%). Feedback indicated support could improved by increased access to Parkinson’s disease Clinical Nurse Specialists and to educational resources and support. Findings highlight the need to establish Australian guidelines for Parkinson’s clinical management, greater resourcing for clinicians including development of educational programs, and creation of Australian-centric educational resources to improve quality of care for PwP.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"20 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143893125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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 role of alpha-synuclein in synucleinopathy: Impact on lipid regulation at mitochondria–ER membranes α -突触核蛋白在突触核蛋白病中的作用：对线粒体-内质网膜脂质调节的影响

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-04-30 DOI: 10.1038/s41531-025-00960-x

Peter A. Barbuti, Cristina Guardia-Laguarta, Taekyung Yun, Zena K. Chatila, Xena Flowers, Chantel Wong, Bruno F. R. Santos, Simone B. Larsen, James S. Lotti, Nobutaka Hattori, Elizabeth Bradshaw, Ulf Dettmer, Saranna Fanning, Vilas Menon, Hasini Reddy, Andrew F. Teich, Rejko Krüger, Estela Area-Gomez, Serge Przedborski

{"title":"The role of alpha-synuclein in synucleinopathy: Impact on lipid regulation at mitochondria–ER membranes","authors":"Peter A. Barbuti, Cristina Guardia-Laguarta, Taekyung Yun, Zena K. Chatila, Xena Flowers, Chantel Wong, Bruno F. R. Santos, Simone B. Larsen, James S. Lotti, Nobutaka Hattori, Elizabeth Bradshaw, Ulf Dettmer, Saranna Fanning, Vilas Menon, Hasini Reddy, Andrew F. Teich, Rejko Krüger, Estela Area-Gomez, Serge Przedborski","doi":"10.1038/s41531-025-00960-x","DOIUrl":"https://doi.org/10.1038/s41531-025-00960-x","url":null,"abstract":"The protein alpha-synuclein (αSyn) plays a pivotal role in the pathogenesis of synucleinopathies, including Parkinson’s disease and multiple system atrophy, with growing evidence indicating that lipid dyshomeostasis is a key phenotype in these neurodegenerative disorders. Previously, we identified that αSyn localizes, at least in part, to mitochondria-associated endoplasmic reticulum membranes (MAMs), which are transient functional domains containing proteins that regulate lipid metabolism, including the de novo synthesis of phosphatidylserine. In the present study, we analyzed the lipid composition of postmortem human samples, focusing on the substantia nigra pars compacta of Parkinson’s disease and controls, as well as three less affected brain regions of Parkinson’s donors. To further assess synucleinopathy-related lipidome alterations, similar analyses were performed on the striatum of multiple system atrophy cases. Our data reveal region- and disease-specific changes in the levels of lipid species. Specifically, our data revealed alterations in the levels of specific phosphatidylserine species in brain areas most affected in Parkinson’s disease. Some of these alterations, albeit to a lesser degree, are also observed in multiple system atrophy. Using induced pluripotent stem cell-derived neurons, we show that αSyn regulates phosphatidylserine metabolism at MAM domains, and that αSyn dosage parallels the perturbation in phosphatidylserine levels. These findings support the notion that αSyn pathophysiology is linked to the dysregulation of lipid homeostasis, which may contribute to the vulnerability of specific brain regions in synucleinopathy. These findings have significant therapeutic implications.<figure></figure>","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"86 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143889525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Amplifying walking activity in Parkinson’s disease through autonomous music-based rhythmic auditory stimulation: randomized controlled trial 通过基于自主音乐的节奏性听觉刺激来增强帕金森病的行走活动：随机对照试验

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-04-29 DOI: 10.1038/s41531-025-00952-x

F. Porciuncula, J. T. Cavanaugh, J. Zajac, N. Wendel, T. Baker, D. Arumukhom Revi, N. Eklund, M. B. Holmes, L. N. Awad, T. D. Ellis

{"title":"Amplifying walking activity in Parkinson’s disease through autonomous music-based rhythmic auditory stimulation: randomized controlled trial","authors":"F. Porciuncula, J. T. Cavanaugh, J. Zajac, N. Wendel, T. Baker, D. Arumukhom Revi, N. Eklund, M. B. Holmes, L. N. Awad, T. D. Ellis","doi":"10.1038/s41531-025-00952-x","DOIUrl":"https://doi.org/10.1038/s41531-025-00952-x","url":null,"abstract":"Habitual moderate intensity walking has disease-modifying benefits in Parkinson’s disease (PD). However, the lack of sustainable gait interventions that collectively promote sufficient intensity, daily amount, and quality of walking marks a critical gap in PD rehabilitation. In this randomized controlled trial (clinicaltrials.gov#: NCT05421624, registered on June 6, 2022), we demonstrate the effectiveness of a real-world walking intervention delivered using an autonomous music-based digital rhythmic auditory stimulation (RAS) system. In comparison to an active-control arm (N = 20) of moderately intense brisk walking, the autonomous RAS system used in the experimental arm (N = 21) amplified moderate-to-vigorous walking intensities, increased daily steps, and improved (reduced) gait variability. While regular engagement in real-world walking with or without RAS each cultivated habits for walking, only the RAS intervention yielded a combination of strengthened habits and improved gait outcomes. Findings from this study supported the use of a personalized, autonomous RAS gait intervention that is effective, habit-forming and translatable to real-world walking in individuals with PD.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"46 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143884607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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