Movement Disorders最新文献

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Spatial Metabolic Covariance Networks in Progressive Supranuclear Palsy: Implications for Symptomatology and Their Neural Basis 进行性核上性麻痹的空间代谢协方差网络：对症状学及其神经基础的影响

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-30 DOI: 10.1002/mds.70099

Bo Wang, Haotian Wang, Yixin Kang, Sheng Wu, Nan Jin, Haoyu Wang, Zhidong Cen, Dehao Yang, Xinhui Chen, Xiaofeng Dou, Congcong Yu, Yan Zhong, Mei Tian, Hong Zhang, Wei Luo

Background Progressive supranuclear palsy (PSP) is a clinically heterogeneous neurodegenerative disorder with unclear pathophysiology. Objective This study aimed to uncover clinically relevant metabolic networks derived from 18 F‐fluorodeoxyglucose (FDG) positron emission tomography (PET) in PSP. Methods FDG and dopaminergic transporter PET data from 72 PSP patients and 70 healthy controls were analyzed, with an independent test set of 24 PSP patients. All patients underwent comprehensive neuropsychiatric assessments. Using spatial independent component analysis, the study identified independent metabolic networks and examined their correlations with clinical features and striatal dopaminergic binding. Results Three distinct metabolic networks were identified in PSP: The first network demonstrated hypometabolism in dorsomedial thalamus (dmT), medial prefrontal cortex (mPFC) and midbrain, termed the dmT‐mPFC network, negatively correlating with disease severity, functional disability and duration, and associating with gait/midline disturbances and ocular dysfunction. The second network displayed posterior cingulate cortex (PCC) and lateral prefrontal hypometabolism (LPFC), named the PCC‐LPFC network, linking to disease severity, cognitive impairment, and parkinsonism. The third network exhibited preserved putamen metabolism with ventrolateral thalamus and sensorimotor cortex hypermetabolism, inversely relating to disease duration. Both dmT‐mPFC and PCC‐LPFC networks strongly correlated with striatal dopaminergic degeneration. The test set showed strong associations between cognitive impairment and the PCC–LPFC network, and between functional disability and the dmT–mPFC network, along with potential trends linking disease severity to these networks. Conclusion The robust clinical and dopaminergic‐related independent metabolic networks offer novel insights into disease pathophysiology, whereas their qualitative weighting offers a potential tool for staging disease severity. © 2025 International Parkinson and Movement Disorder Society.

背景进行性核上性麻痹（PSP）是一种临床异质性神经退行性疾病，病理生理不明确。目的本研究旨在揭示18f -氟脱氧葡萄糖（FDG）正电子发射断层扫描（PET）在PSP中的临床相关代谢网络。方法对72例PSP患者和70例健康对照者的FDG和多巴胺能转运体PET数据进行分析，并采用24例PSP患者的独立测试集。所有患者都接受了全面的神经精神评估。利用空间独立成分分析，该研究确定了独立的代谢网络，并研究了它们与临床特征和纹状体多巴胺能结合的相关性。结果在PSP中发现了三个不同的代谢网络：第一个网络显示在背内侧丘脑（dmT）、内侧前额叶皮层（mPFC）和中脑中代谢低下，称为dmT - mPFC网络，与疾病严重程度、功能残疾和持续时间负相关，并与步态/中线障碍和眼功能障碍相关。第二个网络显示后扣带皮层（PCC）和外侧前额叶代谢低下（LPFC），被命名为PCC - LPFC网络，与疾病严重程度、认知障碍和帕金森症有关。第三个神经网络显示壳核代谢与腹外侧丘脑和感觉运动皮层的高代谢保持一致，与疾病持续时间呈负相关。dmT - mPFC和PCC - LPFC网络都与纹状体多巴胺能变性密切相关。测试集显示认知障碍与PCC-LPFC网络之间、功能障碍与dmT-mPFC网络之间存在强烈关联，以及疾病严重程度与这些网络之间的潜在趋势。结论：强大的临床和多巴胺能相关的独立代谢网络为疾病病理生理学提供了新的见解，而它们的定性加权为疾病严重程度分期提供了潜在的工具。©2025国际帕金森和运动障碍学会。

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引用次数: 0

Comments on: “Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis” 评论：“双等位ELOVL1变异与低髓鞘性脑白质营养不良、运动障碍和鱼鳞病有关”

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-30 DOI: 10.1002/mds.70117

DuJiang Yang, Jiexiang Yang, GuoYou Wang

引用次数: 0

Barcelona Progressive Supranuclear Palsy (PSP) Registry: Clinical, Oculomotor, and Cerebrospinal Fluid Markers; from Suggestive to Definite Cases. 巴塞罗那进行性核上性麻痹（PSP）登记：临床、眼动和脑脊液标志物从暗示到确定。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-29 DOI: 10.1002/mds.70086

Celia Painous,Manel Fernández,Ana Cámara,Salut Alba-Arbalat,Marta Soto,Carla Brenlla,Esteban Muñoz,Alexandra Pérez-Soriano,Francesc Valldeoriola,Maria J Martí,Eduard Tolosa,Alicia Garrido,Almudena Sánchez-Gómez,Laura Maragall,Anna Camós-Carreras,Montse Tió,Nuria Martín,Misericordia Basora,Mariateresa Buongiorno,Maria C Pont-Sunyer,Tania Delgado,Anna Planas-Ballvé,Nuria Caballol,Asunción Ávila,Dolores Vilas,Serge Jaumà,Carla Marco,Oriol de Fàbregues,Nuria Matos,Anna Mas,Natàlia Mas,Josep M Aragonés,Helena Bejr-Kasem,Judith Navarro-Otano,Elisabet Montori-Palacín,Mircea Balasa,Jordi Sarto,Sergi Borrego-Écija,Pedro Roldán,Andrés Perissinotti,Laura Molina-Porcel,Iban Aldecoa,Jessica Pérez-Montesino,Lorena de Mena,Laura Naranjo,Raquel Ruiz-García,Yaroslau Compta

BACKGROUNDTimely and accurate diagnosis of progressive supranuclear palsy (PSP) remains challenging.OBJECTIVETo assess diagnostic certainty and progression biomarkers in the PSP spectrum from "suggestive of" (so-PSP) category as proxy of early disease, to definite (neuropathologically confirmed) cases.METHODSMulticenter, prospective, longitudinal study of 131 participants (so-PSP, n = 23; definite, n = 5) with oculometric (n = 47) and cerebrospinal fluid (CSF) biomarkers (n = 75), compared with control (n = 18) and Parkinson's disease (PD) subjects (n = 12).RESULTSAnti-saccade velocities were significantly reduced in so-PSP versus PD and controls. CSF α-synuclein seed amplification assay (asyn-SAA) was positive in 20% of PSP cases (vs. 100% PD and 0% controls). Longitudinally (median of 1.3 years), all probable/possible-PSP cases retained their diagnosis regardless of CSF asyn-SAA result. In so-PSP, worse saccades' variables and negative/low-fluorescence-positive asyn-SAA at baseline related to longitudinal diagnosis reinforcement. Clinical scales and neurofilament light chain (NfL) predicted shorter survival.CONCLUSIONSQuantitative oculometry and negative/low-fluorescence-positive CSF asyn-SAA predict diagnostic validation in so-PSP. In probable/possible-PSP, positive CSF asyn-SAA may suggest copathology, although confirmation requires larger pathological studies. © 2025 International Parkinson and Movement Disorder Society.

进展性核上性麻痹（PSP）的及时准确诊断仍然具有挑战性。目的评估PSP谱中的诊断确定性和进展生物标志物，从“暗示”（so-PSP）类别作为早期疾病的代理，到明确（神经病理学证实）病例。方法对131名参与者（so-PSP, n = 23; definite, n = 5）进行多中心、前瞻性、纵向研究，其中眼测（n = 47）和脑脊液（CSF）生物标志物（n = 75），与对照组（n = 18）和帕金森病（PD）受试者（n = 12）进行比较。结果与PD和对照组相比，so-PSP组的抗扫视速度明显降低。脑脊液α-突触核蛋白种子扩增试验（asyna - saa）在20%的PSP病例中呈阳性（PD为100%，对照组为0%）。纵向（中位数为1.3年），所有可能/可能的psp病例都保留了诊断，无论CSF非同步saa结果如何。在so-PSP中，较差的扫视变量和基线时阴性/低荧光阳性的异步saa与纵向诊断强化有关。临床量表和神经丝轻链（NfL）预测较短的生存期。结论定量眼测法和CSF异步saa阴性/低荧光阳性预测so-PSP的诊断有效性。在可能/可能的psp中，脑脊液异步saa阳性可能提示病理，尽管证实需要更大的病理研究。©2025国际帕金森和运动障碍学会。

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引用次数: 0

Treatment Options for Motor Fluctuations in Parkinson's Disease. 帕金森病运动波动的治疗选择

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-28 DOI: 10.1002/mds.70107

Günter Höglinger,Paul Lingor,Matthias Höllerhage,Claudia Trenkwalder

引用次数: 0

Reply: "Treatment Options for Motor Fluctuations in Parkinson's Disease". 回复：“帕金森病运动波动的治疗方案”。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-28 DOI: 10.1002/mds.70109

Rob M A de Bie,Regina Katzenschlager,Veronica Bruno,Cristina Sampaio,Susan H Fox,Monty A Silverdale

引用次数: 0

Longitudinal Evaluation of an Abbreviated Patient-Reported Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) for Predicting Dopaminergic Therapy Initiation in Early Parkinson's Disease. 一项由患者报告的运动障碍学会赞助的统一帕金森病评定量表（MDS-UPDRS）的纵向评估，用于预测早期帕金森病多巴胺能治疗的开始。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-27 DOI: 10.1002/mds.70096

Mohammad Samsul Alam,Luowen Yu,Glenn T Stebbins,Tiago A Mestre,Christopher G Goetz,Sheng Luo

BACKGROUNDPredicting initiation of dopaminergic therapy in early Parkinson's disease (PD) is important for clinical management and trial design. Prior cross-sectional work identified a six-item patient-reported subset from the Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Parts IB + II, but its longitudinal utility is unknown.OBJECTIVESTo test whether modeling longitudinal symptom trajectories improves prediction of dopaminergic therapy initiation beyond baseline-only models, and to identify an abbreviated patient-reported subset with stable prognostic value and utility for trial stratification.METHODSData were harmonized from 1787 untreated early PD patients across six multicenter studies. All 20 MDS-UPDRS Parts IB + II items were analyzed using a longitudinal item response theory model. Items were ranked by discrimination and information functions, and cumulative subsets evaluated in Cox models with time-dependent covariates, adjusted for age, sex, disease duration, and Hoehn and Yahr stage. Predictive accuracy was quantified by concordance index (C-index) for full follow-up and truncation at 1 and 2 years. Risk stratification was assessed based on baseline abbreviated subset scores using Kaplan-Meier analyses.RESULTSAn 11-item model consistently outperformed the full 20-item scale (C-index 0.609 vs. 0.597, P < 0.001 with full follow-up; 0.621 vs. 0.599, P < 0.001 at 1 year; 0.615 vs. 0.602, P < 0.001 at 2 years). Longitudinal updates improved discrimination over baseline-only models (eg, 0.609 vs. 0.594 for full follow-up). Higher baseline 11-item scores were strongly associated with earlier therapy initiation.CONCLUSIONSLongitudinal symptom modeling improves prediction of therapy initiation in early PD. An abbreviated 11-item patient-reported MDS-UPDRS provides stronger prognostic value than the full scale and supports trial stratification and clinical monitoring. © 2025 International Parkinson and Movement Disorder Society.

背景预测早期帕金森病（PD）开始多巴胺能治疗对临床管理和试验设计很重要。先前的横断面研究从运动障碍学会赞助的统一帕金森病评定量表（MDS-UPDRS） IB + II部分修订中确定了一个6项患者报告的子集，但其纵向效用尚不清楚。目的检验纵向症状轨迹建模是否能改善对多巴胺能治疗开始的预测，并确定一个具有稳定预后价值和实用价值的简短患者报告亚群，用于试验分层。方法：数据来自6个多中心研究的1787例未经治疗的早期PD患者。采用纵向项目反应理论模型对所有20个MDS-UPDRS part IB + II项目进行分析。根据区分和信息功能对项目进行排序，并在Cox模型中使用时间相关协变量评估累积子集，并根据年龄、性别、疾病持续时间和Hoehn和Yahr分期进行调整。通过全随访和1年和2年截断的一致性指数（C-index）量化预测准确性。使用Kaplan-Meier分析，基于基线简化子集评分评估风险分层。结果11项模型的表现始终优于完整的20项量表（全随访时c指数0.609比0.597,P < 0.001； 1年时c指数0.621比0.599,P < 0.001； 2年时c指数0.615比0.602,P < 0.001）。纵向更新改善了仅基线模型的辨别力（例如，0.609对0.594的全随访）。较高的基线11项得分与早期治疗开始密切相关。结论纵向症状模型提高了对早期PD患者开始治疗的预测。一个简短的11项患者报告的MDS-UPDRS提供了比全量表更强的预后价值，并支持试验分层和临床监测。©2025国际帕金森和运动障碍学会。

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引用次数: 0

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency. 多巴胺代谢改变及对MCT8缺乏症左旋多巴/卡比多巴治疗的反应

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-27 DOI: 10.1002/mds.70093

Fabio Bruschi,Ylenia Vaia,Clara E Antonello,Marco Spada,Francesco Porta,Cristina Marinaccio,Claudia Carducci,Thomas Opladen,Jacopo Sartorelli,Federica Maria Zibordi,Daniele Ghezzi,Francesco Nicita,Davide Tonduti

BACKGROUNDAllan-Herndon-Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X-linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation. Dopaminergic circuit involvement is suggested by both pathophysiology and clinical features, reminiscent of infantile parkinsonism.OBJECTIVEThis study investigates dopamine metabolism and levodopa/carbidopa response in MCT8 patients.METHODSWe retrospectively and prospectively collected clinical, genetic, and neuroimaging data, performed cerebrospinal fluid (CSF) biogenic amine analyses, and conducted neurological assessments before and after the levodopa trial (10 mg/kg/day).RESULTSTen patients exhibited developmental delay, spasticity, and infantile parkinsonism. CSF analysis showed reduced homovanillic acid in 3/10 patients, with 7/10 in the lowest quartile. Levodopa improved parkinsonism and reactivity in 7/10 patients.CONCLUSIONSOur findings confirm dopaminergic involvement in AHDS and show that levodopa/carbidopa effectively treats extrapyramidal symptoms. Further investigations could differentiate presynaptic and postsynaptic defects to optimize dopaminergic therapy. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

allan - hernton - dudley综合征(AHDS)/单羧酸转运蛋白8 （MCT8）缺乏症是一种罕见的x连锁脑病，由SLC16A2变异引起，影响甲状腺激素（TH）向大脑的转运。这导致早期中枢神经系统（CNS） TH缺乏，影响大脑成熟。病理生理学和临床特征提示多巴胺能回路受累，使人联想到婴儿帕金森病。目的探讨MCT8患者多巴胺代谢和左旋多巴/卡比多巴反应。方法回顾性和前瞻性收集临床、遗传学和神经影像学资料，进行脑脊液（CSF）生物胺分析，并在左旋多巴试验（10 mg/kg/天）前后进行神经学评估。结果10例患者表现为发育迟缓、痉挛和婴儿帕金森症。脑脊液分析显示，3/10的患者高香草酸减少，7/10的患者在最低四分位数。左旋多巴改善了7/10患者的帕金森病和反应性。结论本研究结果证实多巴胺能参与AHDS，表明左旋多巴/卡比多巴可有效治疗锥体外系症状。进一步的研究可以区分突触前和突触后缺陷，以优化多巴胺能治疗。©2025作者。Wiley期刊有限责任公司代表国际帕金森和运动障碍学会出版的《运动障碍》。

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引用次数: 0

Further Investigation of Catechol-O-Methyltransferase Gene and Parkinson's Disease Susceptibility in the UK Biobank Cohort. 英国生物库队列中儿茶酚- o -甲基转移酶基因与帕金森病易感性的进一步研究

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Movement Disorders

Pub Date : 2025-10-27 DOI: 10.1002/mds.70098

Zhen Hu,Jing-Jin Wan,Qin-Qin Yan,Yu Fan,Jun Liu

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Movement Disorders: Volume 40, Number 10, October 2025 运动障碍：第40卷，第10号，2025年10月

IF 7.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-26 DOI: 10.1002/mds.70083

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October Infographic 10月信息

IF 7.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-10-26 DOI: 10.1002/mds.29859

Deep learning to differentiate parkinsonian syndromes using multimodal MRI: A proof-of-concept study

使用多模态MRI进行深度学习以区分帕金森综合征：一项概念验证研究

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