NPJ Parkinson's Disease最新文献_第3页

Innovations and ongoing challenges in digital technologies for Parkinson's disease.

IF 6.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-27 DOI: 10.1038/s41531-025-00920-5

Ryan T Roemmich, Elena Moro, Peter B Shull

引用次数: 0

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-25 DOI: 10.1038/s41531-025-00896-2

Lara M. Lange, Kristin Levine, Susan H. Fox, Connie Marras, Nazish Ahmed, Nicole Kuznetsov, Dan Vitale, Hirotaka Iwaki, Katja Lohmann, Luca Marsili, Alberto J. Espay, Peter Bauer, Christian Beetz, Jessica Martin, Stewart A. Factor, Lenora A. Higginbotham, Honglei Chen, Hampton Leonard, Mike A. Nalls, Niccolo E. Mencacci, Huw R. Morris, Andrew B. Singleton, Christine Klein, Cornelis Blauwendraat, Zih-Hua Fang

引用次数: 0

Speech and language biomarkers for Parkinson’s disease prediction, early diagnosis and progression

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-24 DOI: 10.1038/s41531-025-00913-4

Fangyuan Cao, Adam P. Vogel, Puya Gharahkhani, Miguel E. Renteria

{"title":"Speech and language biomarkers for Parkinson’s disease prediction, early diagnosis and progression","authors":"Fangyuan Cao, Adam P. Vogel, Puya Gharahkhani, Miguel E. Renteria","doi":"10.1038/s41531-025-00913-4","DOIUrl":"https://doi.org/10.1038/s41531-025-00913-4","url":null,"abstract":"Parkinson’s disease (PD), a multifaceted neurodegenerative disorder, can manifest as an array of motor and non-motor symptoms. Among these, speech and language impairments are particularly prevalent, often preceding motor dysfunctions. Emerging research indicates that these impairments may serve as early disease indicators. In this narrative review, we synthesised current findings on the potential of speech and language symptoms in PD identification and progression monitoring. Our review highlights convergent, albeit preliminary, lines of evidence supporting the value of speech-related features in detecting early or prodromal PD, even across language groups, especially with sophisticated analytical techniques. Distinct speech patterns in PD subtypes and other neurological disorders may assist in differential diagnosis and inform targeted management efforts. These features also evolve over the disease course and could effectively be utilised for disease tracking and guide management plan modifications. Advances in digital voice processing allow cost-effective, remote and scalable monitoring for larger populations.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"35 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677706","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

Voluntary exercise alleviates neural functional deficits in Parkinson’s disease mice by inhibiting microglial ferroptosis via SLC7A11/ALOX12 axis 通过 SLC7A11/ALOX12 轴抑制小胶质细胞铁凋亡，自主运动可减轻帕金森病小鼠的神经功能缺陷

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-23 DOI: 10.1038/s41531-025-00912-5

Jinghui Xu, Xiaofei He, Lili Li, Liying Zhang, Mingyue Li, Yating Mu, Xiaofeng Yang, Shiyin Li, Yifeng Feng, Zejie Zuo, Yunqi Xu, Xiquan Hu, Haiqing Zheng

{"title":"Voluntary exercise alleviates neural functional deficits in Parkinson’s disease mice by inhibiting microglial ferroptosis via SLC7A11/ALOX12 axis","authors":"Jinghui Xu, Xiaofei He, Lili Li, Liying Zhang, Mingyue Li, Yating Mu, Xiaofeng Yang, Shiyin Li, Yifeng Feng, Zejie Zuo, Yunqi Xu, Xiquan Hu, Haiqing Zheng","doi":"10.1038/s41531-025-00912-5","DOIUrl":"https://doi.org/10.1038/s41531-025-00912-5","url":null,"abstract":"Microglia are more susceptible to ferroptosis compared to neurons and astrocytes, which may compromise their phagocytic and clearance capabilities of α-synuclein (α-syn) in Parkinson’s disease (PD). While the beneficial effects of physical exercise (PE) on reducing α-syn deposition in PD have been highlighted, the role of PE in modulating microglial ferroptosis remains unclear. This study focuses on the impact of exercise on inhibiting microglial ferroptosis and mitigating α-syn accumulation. We demonstrate that voluntary exercise effectively inhibits microglial ferroptosis. Mechanistically, PE-induced upregulation of SLC7A11 inhibits microglial ferroptosis by suppressing ALOX12, thereby enhancing microglial phagocytosis and clearance of α-syn, which is paralleled by improvements in neurological function in PD mice. Collectively, these findings not only underscore the critical role of microglial ferroptosis in the pathological progression of PD but also elucidate the molecular mechanism by which PE attenuates microglial ferroptosis via the SLC7A11/ALOX12 axis.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"27 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675219","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

Impaired odor recognition memory in Parkinson’s disease linked to absent functional hippocampal asymmetry

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-23 DOI: 10.1038/s41531-025-00906-3

Tom Eek, Thomas A. W. Bolton, Nil Dizdar, Maria Larsson, Fredrik Lundin, Charalampos Georgiopoulos

引用次数: 0

Plasma GFAP and NfL associate with cerebral glucose metabolism in putative brain-first and body-first Parkinson’s disease subtypes

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-22 DOI: 10.1038/s41531-025-00898-0

Shiyu Li, Fangyang Jiao, Xiuyuan Li, Zhiheng Xu, Tianyu Hu, Xiaoniu Liang, Jianjun Wu, Jian Wang, Chuantao Zuo, Yilin Tang

{"title":"Plasma GFAP and NfL associate with cerebral glucose metabolism in putative brain-first and body-first Parkinson’s disease subtypes","authors":"Shiyu Li, Fangyang Jiao, Xiuyuan Li, Zhiheng Xu, Tianyu Hu, Xiaoniu Liang, Jianjun Wu, Jian Wang, Chuantao Zuo, Yilin Tang","doi":"10.1038/s41531-025-00898-0","DOIUrl":"https://doi.org/10.1038/s41531-025-00898-0","url":null,"abstract":"The recently proposed body-first and brain-first subtypes are classified based on the initial localization of α-synuclein inclusions. This study investigated plasma biomarkers and cerebral glucose metabolism characteristics in putative brain-first and body-first subtypes in PD subjects. PD patients without possible RBD (PDpRBD–) (n = 58) and with possible RBD symptoms discovered before motor symptoms (PDpRBD+) (n = 43) were recruited. Single-molecule array (SimoA) was used for measuring plasma biomarkers, including glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), Tau and phosphorylated-tau 181 (pTau-181). All participants underwent 18F-fluorodeoxyglucose (FDG) PET scans. Compared to PDpRBD– patients, PDpRBD+ patients exhibited significantly increased plasma GFAP levels and reduced 18F-FDG uptake in cortical regions. Notably, plasma GFAP and NfL levels correlated with cerebral glucose metabolism in PDpRBD– patients. Our study identified the association between plasma GFAP and NfL levels and cerebral glucose metabolism in PDpRBD– patients. Further large-scale longitudinal studies are required.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"143 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143672740","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

Digital gait biomarkers in Parkinson’s disease: susceptibility/risk, progression, response to exercise, and prognosis

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-21 DOI: 10.1038/s41531-025-00897-1

Martina Mancini, Mitra Afshari, Quincy Almeida, Sommer Amundsen-Huffmaster, Katherine Balfany, Richard Camicioli, Cory Christiansen, Marian L. Dale, Leland E. Dibble, Gammon M. Earhart, Terry D. Ellis, Garett J. Griffith, Madeleine E. Hackney, Jammie Hopkins, Fay B. Horak, Kelvin E. Jones, Leah Ling, Joan A. O’Keefe, Kimberly Kwei, Genevieve Olivier, Ashwini K. Rao, Anjali Sivaramakrishnan, Daniel M. Corcos

{"title":"Digital gait biomarkers in Parkinson’s disease: susceptibility/risk, progression, response to exercise, and prognosis","authors":"Martina Mancini, Mitra Afshari, Quincy Almeida, Sommer Amundsen-Huffmaster, Katherine Balfany, Richard Camicioli, Cory Christiansen, Marian L. Dale, Leland E. Dibble, Gammon M. Earhart, Terry D. Ellis, Garett J. Griffith, Madeleine E. Hackney, Jammie Hopkins, Fay B. Horak, Kelvin E. Jones, Leah Ling, Joan A. O’Keefe, Kimberly Kwei, Genevieve Olivier, Ashwini K. Rao, Anjali Sivaramakrishnan, Daniel M. Corcos","doi":"10.1038/s41531-025-00897-1","DOIUrl":"https://doi.org/10.1038/s41531-025-00897-1","url":null,"abstract":"This narrative review examines the utility of gait digital biomarkers in Parkinson’s disease (PD) research and clinical trials across four contexts: disease susceptibility/risk, disease progression, response to exercise, and fall prediction. The review of the literature to date suggests that upper body characteristics of gait (e.g., arm swing, trunk motion) may indicate susceptibility/risk of PD, while pace aspects (e.g., gait speed, stride length) are informative for tracking disease progression, exercise response, and fall likelihood. Dynamic stability aspects (e.g., trunk regularity, double-support time) worsen with disease progression but can improve with exercise. Gait variability emerges as a sensitive biomarker across all 4 contexts but with low specificity. The lack of standardized gait testing protocols and the lack of a minimum set of quantified digital gait biomarkers limit data harmonization across studies. Future studies, using a commonly agreed upon protocol, could be used to demonstrate the utility of specific gait biomarkers for clinical practice.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"114 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143666072","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

Explaining facial action units' correlation with hypomimia and clinical scores in Parkinson’s disease

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-21 DOI: 10.1038/s41531-025-00895-3

Anas Filali Razzouki, Laetitia Jeancolas, Sara Sambin, Graziella Mangone, Alizé Chalançon, Manon Gomes, Stéphane Lehéricy, Marie Vidailhet, Isabelle Arnulf, Jean-Christophe Corvol, Dijana Petrovska-Delacrétaz, Mounim A. El-Yacoubi

{"title":"Explaining facial action units' correlation with hypomimia and clinical scores in Parkinson’s disease","authors":"Anas Filali Razzouki, Laetitia Jeancolas, Sara Sambin, Graziella Mangone, Alizé Chalançon, Manon Gomes, Stéphane Lehéricy, Marie Vidailhet, Isabelle Arnulf, Jean-Christophe Corvol, Dijana Petrovska-Delacrétaz, Mounim A. El-Yacoubi","doi":"10.1038/s41531-025-00895-3","DOIUrl":"https://doi.org/10.1038/s41531-025-00895-3","url":null,"abstract":"This study aimed to identify facial regions characterizing hypomimia through facial action units (AU). It included video recordings from 109 early-stage Parkinson’s disease (PD) and 45 healthy control (HC) subjects, performing rapid syllable repetitions. We identified the features contributing most to hypomimia by interpreting an XGBoost model classifying PD vs. HC. We evaluated the impact of biological sex and time on features and classification, and the correlation between model’s predictions, AUs, and PD clinical scores over different times. The most discriminant AUs of hypomimia were found on the face lower part, independent of sex, and stable over time. Significant correlations were observed between AU17 (chin raiser) and rigidity of the upper left limb (r = − 0.4), as well as between AU9 (nose wrinkle) and neck rigidity (r = − 0.36). Correlations between XGBoost predictions and MDS-UPDRS3 and neck rigidity scores were also significant (r = 0.3). We obtained for PD detection an AUC of 79.8% and a balanced accuracy of 71.5%.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"19 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143666073","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

Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-21 DOI: 10.1038/s41531-025-00915-2

Monica Gagliardi, Radha Procopio, Grazia Annesi, Jolanda Buonocore, Mariagrazia Talarico, Aldo Quattrone, Andrea Quattrone

引用次数: 0

Comparative analysis of Parkinson’s and inflammatory bowel disease gut microbiomes reveals shared butyrate-producing bacteria depletion

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2025-03-19 DOI: 10.1038/s41531-025-00894-4

Maeve E. Krueger, Jake Sondag Boles, Zachary D. Simon, Stephan D. Alvarez, Nikolaus R. McFarland, Michael S. Okun, Ellen M. Zimmermann, Christopher E. Forsmark, Malú Gámez Tansey

{"title":"Comparative analysis of Parkinson’s and inflammatory bowel disease gut microbiomes reveals shared butyrate-producing bacteria depletion","authors":"Maeve E. Krueger, Jake Sondag Boles, Zachary D. Simon, Stephan D. Alvarez, Nikolaus R. McFarland, Michael S. Okun, Ellen M. Zimmermann, Christopher E. Forsmark, Malú Gámez Tansey","doi":"10.1038/s41531-025-00894-4","DOIUrl":"https://doi.org/10.1038/s41531-025-00894-4","url":null,"abstract":"Epidemiological studies reveal that inflammatory bowel disease (IBD) is associated with an increased risk of Parkinson’s disease (PD). Gut dysbiosis has been documented in both PD and IBD, however it is currently unknown whether gut dysbiosis underlies the epidemiological association between both diseases. To identify shared and distinct features of the PD and IBD microbiome, we recruited 54 PD, 26 IBD, and 16 healthy control individuals and performed the first joint analysis of gut metagenomes. Larger, publicly available PD and IBD metagenomic datasets were also analyzed to validate and extend our findings. Depletions in short-chain fatty acid (SCFA)-producing bacteria, including Roseburia intestinalis, Faecalibacterium prausnitzii, Anaerostipes hadrus, and Eubacterium rectale, as well depletion in SCFA-synthesis pathways were detected across PD and IBD datasets, suggesting that depletion of these microbes in IBD may influence the risk for PD development.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"109 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143661371","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