NPJ Parkinson's Disease最新文献_第3页

Data from the ROPAD study corroborate an association between ITSN1 loss-of-function variants and Parkinson’s disease 来自ROPAD研究的数据证实了ITSN1功能丧失变体与帕金森病之间的关联

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-25 DOI: 10.1038/s41531-026-01562-x

Christian A. Ganoza,Ana Westenberger,Jefri J. Paul,Filipa Curado,Emma N. Somerville,Jörg Rennecke,Peter Bauer,Christian Beetz

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Reply to: Data from the ROPAD study corroborate an association between ITSN1 loss-of-function variants and Parkinson’s disease 回复：ROPAD研究的数据证实了ITSN1功能丧失变体与帕金森病之间的关联

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-25 DOI: 10.1038/s41531-026-01470-0

Guillaume Cogan,Christelle Tesson,Lisa Welment,Fabienne Clot,Eric LeGuern,Aymeric Lanore,Alexandra Dürr,Florence Cormier-Dequaire,Bérengère Debilly,Marc Planes,Graziella Mangone,Suzanne Lesage,Alexis Brice

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Stem cell-derived brain repair for Parkinson’s disease: a review of strategies to improve engraftment 帕金森病的干细胞衍生脑修复：改进植入策略的综述

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-25 DOI: 10.1038/s41531-026-01574-7

Giulia Comini,Mark Denham,Eilís Dowd

引用次数: 0

Unified long-read panel for Parkinson's and repeat expansion disorders. 帕金森氏症和重复扩张障碍的统一长读面板。

IF 8.5 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-24 DOI: 10.1038/s41531-026-01585-4

André Fienemann, Julia C Prietzsche, Joshua Laβ, Christoph Much, Susen Schaake, Theresa Lüth, Carolin Gabbert, Alexander Zimprich, Elisabeth Stögmann, Theresa König, Christos Ganos, Tuğçe Gül-Demirkale, A Nazlı Başak, Roland Dominic G Jamora, Raymond L Rosales, Gerard Saranza, Cid Czarina E Diesta, Meret Möller, Max Borsche, Teresa Kleinz, Alexander Balck, Norbert Brüggemann, Philip Seibler, Christine Klein, Joanne Trinh

{"title":"Unified long-read panel for Parkinson's and repeat expansion disorders.","authors":"André Fienemann, Julia C Prietzsche, Joshua Laβ, Christoph Much, Susen Schaake, Theresa Lüth, Carolin Gabbert, Alexander Zimprich, Elisabeth Stögmann, Theresa König, Christos Ganos, Tuğçe Gül-Demirkale, A Nazlı Başak, Roland Dominic G Jamora, Raymond L Rosales, Gerard Saranza, Cid Czarina E Diesta, Meret Möller, Max Borsche, Teresa Kleinz, Alexander Balck, Norbert Brüggemann, Philip Seibler, Christine Klein, Joanne Trinh","doi":"10.1038/s41531-026-01585-4","DOIUrl":"10.1038/s41531-026-01585-4","url":null,"abstract":"In this study, we designed a gene panel based on Nanopore long-read sequencing using adaptive sampling, targeting n = 564 genes associated with Parkinson's disease (PD) and repeat expansion disorders. We investigated its diagnostic utility in n = 18 patients with (1) pathogenic variants in LRRK2, PRKN, SNCA, and RAB32 (n = 7); (2) idiopathic PD or FTD negative for known genetic causes (n = 3); (3) repeat expansions in ATXN1, ATXN2, ATXN3, C9orf72, DAB1, FGF14, HTT, and TAF1-SVA (n = 8). Three individuals were multiplexed per flow cell, achieving a mean coverage of 24X (SD = ± 9X) per sample. Ultimately, 17/20 (85%; Clopper-Pearson 95% CI: 62-97%) expected pathogenic variants were identified; i.e., an SNCA triplication and two repeat expansions in C9orf72 and TAF1-SVA were missed. Additional variants in STXBP2, AP4S1, RARS2, ALS2, and CNBP were identified in five patients. Adaptive sampling is a versatile genetic diagnostic tool in neurodegenerative disorders, while enabling cost-effective multiplexing. Further validation and improvements in bioinformatic analysis are needed.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"12 1","pages":""},"PeriodicalIF":8.5,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13612410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Effects of thioredoxin-1 on oligodendrocyte lineage cells altered by the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine 硫氧还蛋白-1对1-甲基-4-苯基-1,2,3,6-四氢吡啶改变的少突胶质细胞系细胞的影响

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-24 DOI: 10.1038/s41531-026-01581-8

Fang Yan,Qimeng Xia,Xiaowei Sun,Jiaoyang Duan,Rou Gu,Yue Pan,Liping Bai,Ye Li,Xianwen Zhang,Jie Bai

引用次数: 0

Interaction- and asymmetry-aware facial blendshape analysis for objective quantification of Parkinsonian hypomimia 相互作用和不对称感知面部混合形状分析用于帕金森低贫血症的客观量化

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-23 DOI: 10.1038/s41531-026-01579-2

Berkan Koyak,Timo Menzel,Martin Rodemann,Guido Hennes,Annika Spottke,Eva Saxler,Janis Bedarf,Jennifer Faber,Michael Sommerauer,Patrick Weydt,Martin Reuter,Mario Botsch,Ullrich Wuellner,N. Ahmad Aziz

{"title":"Interaction- and asymmetry-aware facial blendshape analysis for objective quantification of Parkinsonian hypomimia","authors":"Berkan Koyak,Timo Menzel,Martin Rodemann,Guido Hennes,Annika Spottke,Eva Saxler,Janis Bedarf,Jennifer Faber,Michael Sommerauer,Patrick Weydt,Martin Reuter,Mario Botsch,Ullrich Wuellner,N. Ahmad Aziz","doi":"10.1038/s41531-026-01579-2","DOIUrl":"https://doi.org/10.1038/s41531-026-01579-2","url":null,"abstract":"Abstract Reduced facial expressivity (hypomimia) is an early motor feature of Parkinson’s disease (PD), yet its assessment still relies on subjective, coarse-grained clinical scales. Using ExpressionTracker, a consumer-grade application built on Apple’s ARKit framework, we derived 261 facial expression features during standardised cued expression tasks in 34 people with PD and 36 healthy controls (HC). Beyond the expected reduction in movement amplitude, PD was characterised by increased facial asymmetry and attenuated activity of ipsilateral mouth and eye regions. Interaction and asymmetry features were prominent among the between-group differences and explained 38 to 42 percent of the variance in clinician-rated hypomimia. For diagnostic classification (PD versus HC) under nested cross-validation, the best model (gradient boosting machine, GBM) reached an area under the receiver operating characteristic curve (AUC) of 0.834 (95% CI 0.733 to 0.923), followed by XGBoost (0.810, 95% CI 0.702 to 0.906) and light gradient boosting machine (LightGBM; 0.804, 95% CI 0.697 to 0.899). Engineered ARKit features outperformed an amplitude-only baseline (maximum AUC 0.75, 95% CI 0.63 to 0.86) and a demographic confounder-only baseline using age and sex (maximum AUC 0.68, 95% CI 0.55 to 0.80). These results indicate that automated facial blendshape analysis captures multidimensional motor dysfunction beyond amplitude reduction alone, positioning ExpressionTracker as a candidate digital biomarker for community screening, disease monitoring, and drug-efficacy assessment in future clinical trials.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"474 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149020376","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

Epigenome-wide meta-analysis of sex-differential DNA methylation in Parkinson’s disease 帕金森病性别差异DNA甲基化的全表观基因组meta分析

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-23 DOI: 10.1038/s41531-026-01582-7

Tianmi Yang,Chunyu Li,Qianqian Wei,Dejiang Pang,Ruwei Ou,Lingyu Zhang,Yangfan Cheng,Jingxuan Huang,Junyu Lin,Ningning Che,Yi Xiao,Jiajia Fu,Qirui Jiang,Shichan Wang,Xiaoting Zheng,Yongsan Yang,Yilong Chen,Haopeng Yu,Huifang Shang

引用次数: 0

Time-to-event analyses of motor examination and functional outcomes in early Parkinson’s disease clinical trials 早期帕金森病临床试验中运动检查和功能结果的时间-事件分析

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-23 DOI: 10.1038/s41531-026-01578-3

Andrew McGarry,Christopher R. Meyer,Karl Kieburtz,Jordan Dubow,Milton H. Werner,Charles Venuto

引用次数: 0

Beyond motor symptoms: associations between sleep disorders and multidomain functional decline in Parkinson’s disease 超越运动症状：帕金森病睡眠障碍与多域功能衰退之间的关系

IF 8.7 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-16 DOI: 10.1038/s41531-026-01554-x

Chao Tang, Jiaxin Yang, Ming Zhang, Xiaoyang Lei, Yi Chen, Xiaoxue Peng, Dian He

{"title":"Beyond motor symptoms: associations between sleep disorders and multidomain functional decline in Parkinson’s disease","authors":"Chao Tang, Jiaxin Yang, Ming Zhang, Xiaoyang Lei, Yi Chen, Xiaoxue Peng, Dian He","doi":"10.1038/s41531-026-01554-x","DOIUrl":"https://doi.org/10.1038/s41531-026-01554-x","url":null,"abstract":"Sleep disorders are associated with functional outcomes in Parkinson’s disease (PD), yet their multidomain clinical correlates remain incompletely characterized. We analyzed 9195 participants from the National Alzheimer’s Coordinating Center database using inverse probability weighting (IPW) to balance measured covariates between PD patients and controls. Associations of REM sleep behavior disorder (RBD), insomnia, and sleep apnea with motor, cognitive, neuropsychiatric, and instrumental activities of daily living (IADL) outcomes were evaluated using logistic regression, exploratory sequential mediation, and machine learning. RBD showed the broadest multidomain association profile, including stronger associations with bradykinesia, hallucinations, and selected IADL impairments. Insomnia showed a more mixed profile, with neuropsychiatric associations but inverse or null associations for several IADL items, whereas sleep apnea showed more circumscribed associations. RF models showed the strongest discrimination for RBD (AUC = 0.851) and lower discrimination for insomnia and sleep apnea (AUC = 0.667 and 0.666, respectively). Exploratory SEM results were compatible with a motor-related indirect pathway between sleep disorders and IADL impairment (Sleep -> Motor -> IADL; statistical mediation proportion, 35.8%), whereas cognitive and neuropsychiatric pathways showed suppression patterns. Overall, distinct sleep disorders in PD were associated with different functional profiles. These findings support cautious, disorder-specific screening hypotheses that require longitudinal and interventional validation before clinical implementation.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"3 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149010520","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

Inconsistent subthalamic local field potential beta activity amid in- and antiphasic neuronal bursts. 在正相和反相神经元爆发中不一致的丘脑下局部场电位活动。

IF 8.5 1区医学

NPJ Parkinson's Disease Pub Date : 2026-09-16 DOI: 10.1038/s41531-026-01531-4

Maximilian Scherer, Nina Wiedemann, Kai Bötzel, Matthias Löhle, Thomas Kriesen, Daniel Cantré, Jan Hinnerk Mehrkens, René Reese, Thomas Koeglsperger

{"title":"Inconsistent subthalamic local field potential beta activity amid in- and antiphasic neuronal bursts.","authors":"Maximilian Scherer, Nina Wiedemann, Kai Bötzel, Matthias Löhle, Thomas Kriesen, Daniel Cantré, Jan Hinnerk Mehrkens, René Reese, Thomas Koeglsperger","doi":"10.1038/s41531-026-01531-4","DOIUrl":"10.1038/s41531-026-01531-4","url":null,"abstract":"Elevated subthalamic (STN) beta (12-32 Hz) local field potentials (LFP) are a hallmark of Parkinson's disease and closely tied to synchronized spiking. The biomarker guides deep brain stimulation (DBS) lead implantation and is under investigation to inform DBS programming and adaptive DBS, yet its prevalence has not been independently assessed. This study assesses the biomarkers prevalence and investigating its relationship to synchronized beta-bursting neurons. STN LFPs and spiking activity of n = 156 patients with Parkinson's disease from seven DBS centers recorded via microelectrodes were examined and spectral LFP peaks classified. The distribution of phase angles between beta LFP and beta-bursting neurons was explored. Beta LFPs were bilaterally expressed in 47.25% of patients (65.59% of hemispheres). LFP-synchronized neuronal spiking clustered in two peaks, 182.84° phase shifted. This applied on the group level and for individual patients. Beta-LFP-informed approaches mandate reliable biomarker expression, a requirement not met by 52.75% of patients. This is particularly troublesome for intraoperative guidance wherein the cause of biomarker absence, including DBS lead misplacement or a balanced ratio of phasic and antiphasic spiking neurons, cannot be determined. While STN-LFP beta remains a valuable biomarker, multiple biomarkers should be evaluated simultaneously to increase robustness.","PeriodicalId":19706,"journal":{"name":"NPJ Parkinson's Disease","volume":"12 1","pages":""},"PeriodicalIF":8.5,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13582961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148983493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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