Movement Disorders最新文献

Movement Disorders: Volume 41, Number 1, January 2026 运动障碍：第41卷，第1号，2026年1月

IF 7.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-02-07 DOI: 10.1002/mds.70225

引用次数: 0

January Infographic 图1月

IF 7.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-02-07 DOI: 10.1002/mds.70226

A network centered on the visual-motor cortex is critically involved in postural abnormality in Parkinson's disease

引用次数: 0

Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5). 与ADCY5 （MxMD-ADCY5）相关的混合性运动障碍的精神障碍和冷漠。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-30 DOI: 10.1002/mds.70208

Aurélie Méneret,Clément Tarrano,Asya Ekmen,Diane Doummar,Victoria Gonzalez,Christine Tranchant,Mathieu Anheim,Philippe Damier,Eoin Mulroy,Kailash P Bhatia,Laura Cif,Carlo Fusco,Miryam Carecchio,Norbert Brüggemann,Alexander Münchau,Florence Riant,Manon Gomes,Vanessa Brochard,Agathe Roubertie,Oriane Trouillard,Caroline Dubacq,Yulia Worbe,Mohamed Doulazmi,Emmanuel Roze

BACKGROUNDMixed movement disorders linked to ADCY5 (MxMD-ADCY5) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5. Psychiatric symptoms are suspected to be part of the phenotype.OBJECTIVEThe study aim was to assess psychiatric comorbidities in patients with MxMD-ADCY5.METHODSConsecutive patients were assessed with the MINI International Neuropsychiatric Interview (MINI), the shortened Beck Depression Inventory (BDI-13), the Hospital Anxiety and Depression Scale (HADS), and the Starkstein Apathy Scale (SAS).RESULTSTwenty-seven patients and 20 controls were included. Psychiatric disorders were present in 67% of patients compared with 15% of controls (P = 0.00043), mainly anxiety (33% vs. 0%, P = 0.00862) and depression (44% vs. 10%, P = 0.01068). Depression, anxiety, and apathy scores were higher in patients (BDI-13: 3.67 vs. 1.05, P = 0.004; HA: 6.71 vs. 3.90, P = 0.006; AS: 11.67 vs. 6.85, P = 0.001).CONCLUSIONDepression, anxiety, and apathy are likely part of the phenotypic spectrum of MxMD-ADCY5. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

与ADCY5相关的混合性运动障碍（MxMD-ADCY5）是一种罕见的由ADCY5致病变异引起的多动性运动障碍。精神症状被怀疑是表型的一部分。目的评估MxMD-ADCY5患者的精神合并症。方法采用MINI国际神经精神病学访谈（MINI）、缩短版贝克抑郁量表（BDI-13）、医院焦虑抑郁量表（HADS）和斯塔克斯坦冷漠量表（SAS）对连续患者进行评估。结果纳入患者27例，对照组20例。67%的患者存在精神障碍，而对照组为15% (P = 0.00043)，主要是焦虑（33%对0%，P = 0.00862）和抑郁（44%对10%，P = 0.01068）。患者的抑郁、焦虑和冷漠评分较高（BDI-13: 3.67 vs. 1.05, P = 0.004; HA: 6.71 vs. 3.90, P = 0.006; AS: 11.67 vs. 6.85, P = 0.001）。结论抑郁、焦虑、冷漠可能是MxMD-ADCY5表型谱的一部分。©2026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

Monoaminergic Networks of Cognitive and Behavioral Symptoms in Early Parkinson's Disease. 早期帕金森病认知和行为症状的单胺能网络。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-30 DOI: 10.1002/mds.70199

Kalle J Niemi,Valtteri Kaasinen,Rimona S Weil,Juho Joutsa

BACKGROUNDParkinson's disease (PD) is associated with several behavioral and cognitive symptoms, the neurobiological background of which is not yet fully understood.OBJECTIVESThe aim was to investigate the association between monoamine function and four specific nonmotor symptoms in early PD using the Parkinson's Progression Markers Initiative data.METHODS[123I]FP-CIT SPECT imaging data of healthy controls (n = 166) and patients with PD at baseline (n = 349), 2-year (n = 240), and 4-year follow-up (n = 140) were included. Depression, anxiety, rapid eye movement (REM) sleep behavior disorder (RBD) and cognition were evaluated using validated questionnaires. The associations between symptoms and subcortical monoamine transporter binding were analyzed voxel by voxel. Whole brain networks of symptom-specific monoaminergic abnormalities were characterized using a functional connectome (n = 1000) and normative neurotransmitter receptor maps.RESULTSCross-sectionally, depression was associated with reduced ventral striatum (VS) binding at 2- and 4-year and dorsal raphe (DRN) at 4-year follow-up (PFWE < 0.05); trait anxiety was associated with reduced DRN binding at 4-year follow-up (PFWE < 0.05). Longitudinally, lower baseline binding in these regions at baseline predicted more severe future depression and anxiety (PFWE < 0.05). RBD was most strongly linked to reduced VS binding at 2- and 4-year follow-up (nonsignificant after correction, PFWE < 0.1). Each of the symptom-specific clusters was connected to distinct brain networks, corresponding to specific monoamine receptors: serotonin (5HT1F, 5HT2A, 5HT5A) and histamine (H3) for depression; histamine (H1), serotonin (5HT1E, 5HT1F, 5HT2A, 5HT3B), and adrenergic (α1D) for anxiety; and adrenergic (β2) and serotonin (5HT1F, 5HT2C, 5HT5A) receptors for RBD.CONCLUSIONSThe findings provide novel information about the monoaminergic networks underlying depression, anxiety, and RBD in PD. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

背景：帕金森病（PD）与几种行为和认知症状相关，其神经生物学背景尚未完全了解。目的：利用帕金森进展标志物倡议数据，研究单胺功能与早期PD患者四种特异性非运动症状之间的关系。方法纳入健康对照（n = 166）、PD患者基线（n = 349）、2年（n = 240）和4年随访（n = 140）的FP-CIT SPECT影像资料。采用有效问卷对抑郁、焦虑、快速眼动（REM）睡眠行为障碍（RBD）和认知进行评估。逐体素分析症状与皮质下单胺转运蛋白结合之间的关系。使用功能连接组（n = 1000）和规范的神经递质受体图来表征症状特异性单胺能异常的全脑网络。结果横断面上，抑郁与2年和4年腹侧纹状体（VS）结合减少和4年中缝背（DRN）结合减少有关（PFWE < 0.05）；在4年随访中，特质焦虑与DRN结合减少相关（PFWE < 0.05）。纵向上，基线时这些区域较低的基线结合预示着未来更严重的抑郁和焦虑（PFWE < 0.05）。在2年和4年随访中，RBD与VS结合减少最密切相关（校正后无统计学意义，PFWE < 0.1）。每个症状特异性集群都连接到不同的大脑网络，对应于特定的单胺受体：血清素（5HT1F, 5HT2A, 5HT5A）和抑郁症的组胺（H3）；组胺（H1）、5 -羟色胺（5HT1E、5HT1F、5HT2A、5HT3B）和肾上腺素能（α1D）治疗焦虑；肾上腺素能（β2）和血清素（5HT1F, 5HT2C, 5HT5A）受体。结论这些发现为PD患者抑郁、焦虑和RBD的单胺能网络提供了新的信息。©2026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

Hearing Loss in Parkinson's Disease: A Systematic Review and Meta-Analysis. 帕金森病的听力损失：系统回顾和荟萃分析。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-30 DOI: 10.1002/mds.70206

Shahryar Rajai Firouzabadi,Ida Mohammadi,Hossein Golsorkh,Sajjad Mahdavi,Sara Sadeghzadeh,Kamran Rezaei,Mehri Salari

BACKGROUNDHearing loss is increasingly recognized as a non-motor manifestation of Parkinson's disease (PD), but its prevalence, characteristics, and underlying mechanisms remain unclear. This systematic review aims to evaluate the prevalence and characteristics of hearing loss in people with PD (PwPD).METHODSPubMed, Embase, and Web of Science were searched without restrictions. Observational studies assessing hearing loss in PwPD using pure tone audiometry (PTA), speech audiometry (SA), or central auditory processing (CAP) tests were included. Random-effects models were applied, and heterogeneity was examined by meta-regression.RESULTSThirty-five studies encompassing 1316 PwPD and 820 controls were included. Pooled prevalence indicated 73.9% (95% CI: 61.5%, 84.8%) of 1009 PwPD had hearing loss, with high-frequency impairment (82.6%) more common than low-frequency loss (45.1%). Compared with age matched controls, PwPD were 1.82 times more likely to experience hearing loss (odds ratio = 1.82; 95% CI: 1.19-2.78; PwPD = 599; healthy controls = 579). Older age and higher-frequency testing predicted higher prevalence. SA results were inconsistent. CAP meta-analyses revealed significant prolongation of brain stem auditory-evoked potential wave III latency (standardized mean difference [SMD] = 0.51; 95% CI: 0.15-0.88), wave V latency (SMD = 0.73; 95% CI: 0.25-1.21), and I-V interpeak interval (SMD = 0.84; 95% CI: 0.41-1.27). Among late latency potentials, N200 latency (SMD = 0.60; 95% CI: 0.20-0.99) and P300 latency (SMD = 0.73; 95% CI: 0.49-0.98) were significantly delayed, while other components showed no group differences.CONCLUSIONSHearing loss is common in PD, extending beyond age-related decline and likely involving both peripheral and central pathways. It may represent an early non-motor symptom and a marker of cognitive vulnerability. © 2026 International Parkinson and Movement Disorder Society.

听力损失越来越被认为是帕金森病（PD）的一种非运动表现，但其患病率、特征和潜在机制尚不清楚。本系统综述旨在评估PD患者听力损失的患病率和特点。方法对spubmed、Embase、Web of Science进行无限制检索。使用纯音测听（PTA）、言语测听（SA）或中央听觉处理（CAP）测试评估PwPD听力损失的观察性研究被纳入。采用随机效应模型，meta回归检验异质性。结果纳入35项研究，包括1316名PwPD和820名对照。合并患病率显示，1009名PwPD患者中有73.9% （95% CI: 61.5%, 84.8%）存在听力损失，高频听力损失（82.6%）比低频听力损失（45.1%）更为常见。与年龄匹配的对照组相比，PwPD患者出现听力损失的可能性是对照组的1.82倍（优势比= 1.82;95% CI: 1.19-2.78; PwPD = 599；健康对照组= 579）。年龄越大，检测频率越高，患病率越高。SA结果不一致。CAP meta分析显示脑干听觉诱发电位波III潜伏期（标准化平均差[SMD] = 0.51; 95% CI: 0.15-0.88）、波V潜伏期（SMD = 0.73; 95% CI: 0.25-1.21）和I-V峰间间隔（SMD = 0.84; 95% CI: 0.41-1.27）显著延长。晚潜伏期电位中，N200潜伏期（SMD = 0.60, 95% CI: 0.20 ~ 0.99）和P300潜伏期（SMD = 0.73, 95% CI: 0.49 ~ 0.98）显著延迟，其他成分组间无差异。结论：剪切损失在PD中很常见，不仅限于年龄相关的衰退，而且可能涉及外周和中枢通路。它可能是一种早期的非运动症状，也是认知脆弱的标志。©2026国际帕金森和运动障碍学会。

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引用次数: 0

Quantifying Placebo Effects in Hereditary Ataxia Trials: A Meta-Analysis of Scale for the Assessment and Rating of Ataxia (SARA) Score Changes. 量化遗传性共济失调试验中的安慰剂效应：一项评估和评定共济失调（SARA）评分变化量表的荟萃分析。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-29 DOI: 10.1002/mds.70151

Emilien Petit,Adonis Beaubois-Gandoin,Alexandra Durr,Sophie Tezenas du Montcel,Giulia Coarelli

BACKGROUND AND OBJECTIVESThe Scale for the Assessment and Rating of Ataxia (SARA) is the primary outcome most frequently used in clinical trials involving hereditary ataxia patients. This systematic review and meta-analysis aimed to quantify changes in SARA scores within placebo arms of these trials to better understand the placebo effect.METHODSPlacebo arm data were collected from clinical trials on hereditary ataxias via PubMed and ClinicalTrials.gov. Heterogeneity was assessed with funnel plots. A random-effects meta-analysis was conducted on trials providing variance data. The influence of covariates such as trial duration, continent, intervention type, publication date, and trial result was evaluated.RESULTSThirty-four trials with placebo arms, including patients with spinocerebellar ataxias and Friedreich's ataxia, were identified. Trial durations ranged from 1 to 52 weeks. Thirty-seven assessment points were included in the meta-analysis, revealing substantial heterogeneity (I2 = 94%). Placebo response differed significantly by continent, with European trials showing minimal effect (0.01 [-0.35; 0.37]) and Asian trials the largest effect (-0.85 [-1.13; -0.58]). Intervention type also impacted placebo response, with device interventions exhibiting the strongest effect (-0.84 [-1.60; -0.08]). Trial duration showed no statistically significant effect; however, a trend of decreasing placebo effect over time was observed.DISCUSSIONThe analysis indicates a measurable placebo effect on SARA scores. Both intervention type and geographic region significantly influenced the strength of this effect, suggesting roles for patient expectations and cultural factors. Additionally, there was a trend toward reduction of placebo response as trial duration increased. © 2026 International Parkinson and Movement Disorder Society.

背景与目的共济失调评定量表（SARA）是遗传性共济失调患者临床试验中最常用的主要指标。本系统综述和荟萃分析旨在量化这些试验中安慰剂组SARA评分的变化，以更好地了解安慰剂效应。方法：通过PubMed和ClinicalTrials.gov网站收集来自遗传性共济失调临床试验的安慰剂组数据。采用漏斗图评估异质性。对提供方差数据的试验进行随机效应荟萃分析。评估了试验持续时间、地区、干预类型、发表日期和试验结果等协变量的影响。结果确定了34项安慰剂组试验，包括脊髓小脑共济失调和弗里德赖希共济失调患者。试验持续时间为1 ~ 52周。37个评估点被纳入meta分析，显示出实质性的异质性（I2 = 94%）。各大洲安慰剂反应差异显著，欧洲试验显示最小效果（0.01[-0.35;0.37]），亚洲试验显示最大效果（-0.85[-1.13;-0.58]）。干预类型也会影响安慰剂反应，其中器械干预效果最强（-0.84[-1.60;-0.08]）。试验时间无统计学意义；然而，随着时间的推移，安慰剂效应呈下降趋势。分析表明对SARA评分有可测量的安慰剂效应。干预类型和地理区域都显著影响了这种效应的强度，表明患者期望和文化因素的作用。此外，随着试验时间的延长，安慰剂反应有减少的趋势。©2026国际帕金森和运动障碍学会。

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引用次数: 0

Discordance of Dopaminergic Dysfunction and Subcortical Atrophy by α-Synuclein Status in Sporadic and Genetic Parkinson's Disease. 散发性和遗传性帕金森病患者α-突触核蛋白状态与多巴胺能功能障碍和皮质下萎缩的不一致。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-28 DOI: 10.1002/mds.70186

Michael Tran Duong,Sandhitsu R Das,Pulkit Khandelwal,Joaquin A Vizcarra,Yue Li,Long Xie,Paul A Yushkevich,Leslie M Shaw,Jacob G Dubroff, ,Andrew Siderowf,David A Wolk,Ilya M Nasrallah

BACKGROUNDParkinson's disease (PD) is characterized by predominantly neuronal α-synuclein pathology and dopaminergic dysfunction. Cerebrospinal fluid (CSF) seeding amplification assays (SAA) detect α-synuclein aggregates in vivo, but not all patients with PD have a positive SAA. This pathological heterogeneity among patients may not be entirely captured by binary results from α-synuclein SAA positivity (S+) versus negativity (S-). To further dissect this biological variability, we explored spatial neuroimaging differences in S+ versus S- patients.OBJECTIVEThe study aim was to investigate how SAA status influences imaging measures of dopamine denervation and atrophy.METHODSWe compare SAA status with CSF proteinopathy markers, 123I-Ioflupane dopamine transporter (DAT), and magnetic resonance imaging (MRI) in participants with sporadic (n = 490), LRRK2-associated (n = 158), and GBA-associated (n = 80) PD from the Parkinson's Progression Markers Initiative (PPMI).RESULTSBetween 64% and 95% of participants in these groups have S+ status. For all groups, S+ participants have decreased putamen DAT neurotransmission compared to S- participants, whereas S- participants have reduced MRI volume in basal ganglia structures relative to S+ participants. With striatal DAT/MRI ratios, S+ participants have disproportionately lower putamen DAT uptake relative to atrophy. In exploratory analyses, participants with cognitive impairment or hyposmia are associated with worse DAT/MRI discordance. By CSF markers, S- participants with sporadic PD have higher CSF pTau181/amyloid-β42 ratio, suggesting Alzheimer's copathology.CONCLUSIONSS+ patients exhibit more dopaminergic deficit, whereas S- patients have more subcortical atrophy across sporadic and genetic PD. Together, our findings reveal structure/function and DAT/MRI discordance, providing insight into biomarkers and pathophysiology of synucleinopathy and PD. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

背景：帕金森病（PD）以神经元α-突触核蛋白病理和多巴胺能功能障碍为主要特征。脑脊液（CSF）种子扩增试验（SAA）在体内检测α-突触核蛋白聚集物，但并非所有PD患者都有SAA阳性。α-突触核蛋白SAA阳性（S+）和阴性（S-）的二元结果可能不能完全反映患者之间的这种病理异质性。为了进一步剖析这种生物学变异，我们探讨了S+和S-患者的空间神经影像学差异。目的探讨SAA状态对多巴胺去神经支配和脑萎缩影像学指标的影响。方法：我们比较了来自帕金森进展标志物计划（PPMI）的散发性（n = 490）、lrrk2相关（n = 158）和gba相关（n = 80） PD患者的SAA状态与脑脊液蛋白病变标志物、123i -碘氟烷多巴胺转运体（DAT）和磁共振成像（MRI）。结果这些组中有64% - 95%的参与者为S+状态。在所有组中，与S-组相比，S+组的壳核DAT神经传递减少，而S-组的基底神经节结构的MRI体积相对于S+组减少。纹状体DAT/MRI比值显示，S+参与者的壳核DAT摄取相对于萎缩不成比例地降低。在探索性分析中，认知障碍或低氧的参与者与更严重的DAT/MRI不一致相关。通过CSF标志物，S-参与者散发性PD的CSF pTau181/淀粉样蛋白β42比值较高，提示阿尔茨海默病病理。结论在散发性和遗传性PD中，ss +患者表现出更多的多巴胺能缺陷，而S-患者表现出更多的皮质下萎缩。总之，我们的发现揭示了结构/功能和DAT/MRI不一致，为突触核蛋白病和PD的生物标志物和病理生理学提供了见解。©2026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

Impact of Alcohol Intake on Parkinson's Disease Risk and Progression: A Systematic Review and Dose-Response Meta-Analysis of Prospective Studies. 酒精摄入对帕金森病风险和进展的影响：前瞻性研究的系统回顾和剂量-反应荟萃分析

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-24 DOI: 10.1002/mds.70200

Sahar Hemeda,Mohammed Elmadani,Mohammed Merzah,Aseel Odeh,Evelyn Pintér,István Balás,József Janszky,Dávid Pintér,Norbert Kovács

The association between alcohol consumption and Parkinson's disease (PD) risk remains unclear, whereas smoking has an inverse relationship with the disease. This study systematically reviewed and meta-analyzed 16 studies (2014-2024) from PubMed, Scopus, Web of Science, MEDLINE, and the Cochrane Library to assess the relationship between alcohol intake and PD risk, examining sex differences, dose-response patterns, smoking interactions, and genetic factors. Alcohol consumption was classified as low, moderate, or heavy, considering beverage type, sex, smoking status, and gene-environment interactions. Random-effects meta-analyses were used to evaluate sex-stratified and subtype-specific associations. PD progression, Mendelian randomization (MR), and gene-environment results were narratively synthesized. Sex-stratified analyses showed inverse associations between alcohol consumption and PD risk versus non-drinkers (lifetime relative risk [LRR] = -0.35 to -0.62), with significant effects in women and no association in low-level drinkers. Subtype analyses indicated protective effects for liquor (RR = -0.12) and wine (RR = -0.16), but not for low-level drinkers. Combined alcohol and smoking exposure produced the greatest PD risk reduction (LRR = -0.37), with pooled estimates confirming an inverse association (LRR = -0.20, I2 = 90.1%). However, MR and gene-environment studies showed inconsistent evidence. Light-to-moderate alcohol consumption, particularly wine and liquor, may reduce PD risk, with the strongest effects when combined with smoking. These findings highlight the combined effects of sex, genetic susceptibility, and lifestyle factors. Further longitudinal and MR studies stratified by sex and genotype are needed to elucidate the mechanisms; however, smoking cannot be recommended due to its detrimental effects. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

饮酒与帕金森病（PD）风险之间的关系尚不清楚，而吸烟与该疾病呈反比关系。本研究系统回顾和荟萃分析了来自PubMed、Scopus、Web of Science、MEDLINE和Cochrane图书馆的16项研究（2014-2024），以评估酒精摄入量与PD风险之间的关系，检查性别差异、剂量反应模式、吸烟相互作用和遗传因素。考虑到饮料类型、性别、吸烟状况和基因与环境的相互作用，饮酒量被分为低、中、重度。随机效应荟萃分析用于评估性别分层和亚型特异性关联。PD进展、孟德尔随机化（MR）和基因-环境结果进行叙述性综合。性别分层分析显示，与不饮酒者相比，饮酒与PD风险呈负相关（终生相对风险[LRR] = -0.35至-0.62），在女性中有显著影响，在低水平饮酒者中无关联。亚型分析表明，白酒（RR = -0.12）和葡萄酒（RR = -0.16）具有保护作用，但对少量饮酒者没有作用。酒精和吸烟联合暴露产生最大的PD风险降低（LRR = -0.37），合并估计证实了负相关（LRR = -0.20, I2 = 90.1%）。然而，MR和基因环境研究显示了不一致的证据。轻度至中度饮酒，特别是葡萄酒和白酒，可能会降低帕金森病的风险，当与吸烟结合时效果最强。这些发现强调了性别、遗传易感性和生活方式因素的综合影响。需要进一步按性别和基因型分层的纵向和磁共振研究来阐明其机制；然而，由于吸烟的有害影响，不建议吸烟。©2026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

Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5-Related Disorder. 双侧苍白球深部脑刺激改善adcy5相关疾病的运动功能。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-24 DOI: 10.1002/mds.70181

Moritz Thiel,Katerina Bernardi,Enrique Gonzalez Saez-Diez,Joshua Rong,Nathalie Dorison,Diane Doummar,Claudia Ravelli,Laura A van de Pol,Joke M Dijk,Rick Schuurman,Marie Aude Spitz,Christophe Boulloud,Monica Troncoso-Schifferli,Daniela Munoz-Chesta,Scellig Stone,Weston T Northam,Kathryn Yang,Anne Koy,Darius Ebrahimi-Fakhari

BACKGROUNDADCY5-related disorder is characterized by disabling hyperkinetic movement disorders. The therapeutic impact of deep brain stimulation (DBS) has not been systematically evaluated.OBJECTIVES/METHODSThis work involved a multicenter cohort study of 8 children with genetically confirmed ADCY5-related movement disorders treated with bilateral globus pallidus internus (GPi) DBS.RESULTSThe mean age at initiation of DBS was 12.9 years (range: 3.5-18). All patients demonstrated improvement in baseline hyperkinesia and paroxysmal exacerbations. Mean Burke-Fahn-Marsden Dystonia Rating Scale motor scores decreased from 50.7 to 22.7 (p = 0.019, d = 1.19). Functional gains included new or recovered motor milestones, improved speech and swallowing, and resolution of sleep-related dyskinesias. There were no perioperative complications.CONCLUSIONSGPi-DBS is a safe and effective therapy for ADCY5-related movement disorders, offering sustained motor and functional improvement. These findings support earlier consideration of DBS to reduce disease burden, preserve function, and improve long-term outcomes. © 2026 International Parkinson and Movement Disorder Society.

背景：cy5相关障碍以致残性多动运动障碍为特征。深部脑刺激（DBS）的治疗效果尚未得到系统评价。目的/方法本研究是一项多中心队列研究，研究对象为8例经遗传确诊的adcy5相关运动障碍患儿，采用双侧苍白球内脑深部脑刺激治疗。结果患者开始DBS治疗的平均年龄为12.9岁（范围3.5-18岁）。所有患者均表现出基线运动亢进和阵发性加重的改善。平均Burke-Fahn-Marsden肌张力障碍评定量表运动评分从50.7降至22.7 （p = 0.019, d = 1.19）。功能进步包括新的或恢复的运动里程碑，语言和吞咽的改善，以及睡眠相关运动障碍的解决。无围手术期并发症。结论sgpi - dbs是一种安全有效的adcy5相关运动障碍治疗方法，可提供持续的运动和功能改善。这些发现支持早期考虑DBS以减轻疾病负担，保持功能和改善长期预后。©2026国际帕金森和运动障碍学会。

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引用次数: 0

Types of Pain in Multiple System Atrophy. 多系统萎缩中的疼痛类型。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2026-01-24 DOI: 10.1002/mds.70194

Nicole Campese,Mubasher A Qamar,Maria Alexandra Chiriac,Georg Göbel,Julia Wanschitz,Andreas Schlager,Bianca Caliò,Fabian Leys,Pam Bower,Laura Zamarian,Anette Schrag,Roy Freeman,Horacio Kaufmann,Roberta Granata,Stefan Kiechl,Werner Poewe,Klaus Seppi,Gregor Wenning,K Ray Chaudhuri,Alessandra Fanciulli

BACKGROUNDPain affects up to 87% of people with multiple system atrophy (MSA), but it remains unclear which types of pain contribute most to the overall burden.OBJECTIVETo estimate the frequency of different types of pain in MSA individuals.METHODSIn 2023, individuals with MSA completed a web-based survey that included the King's Parkinson's Disease Pain Questionnaire (KPPQ) and additional questions addressing pain related to MSA core features (eg, coat-hanger pain, pain due to bladder-issues, cold extremities, bruises, and pressure sores). Respondents were matched by age, gender, and disease duration with historical cohorts of individuals with Parkinson's disease (PD) and healthy controls (n = 96 each) who had previously completed the KPPQ.RESULTSOne hundred and fifty-seven MSA individuals with pain completed the survey. The most frequently reported KPPQ types of pain were nocturnal pain (73%), musculoskeletal pain (63%), and fluctuation-related pain (62%). Common additional pain sources included coat-hanger pain (59%), cold extremities (48%), and bruises (44%). All KPPQ pain types were significantly more frequent in MSA than in healthy controls, except for musculoskeletal pain (63% vs. 66%, P = 0.722). Compared with PD, MSA individuals reported less musculoskeletal (63% vs. 78%, P = 0.023), but more orofacial pain (32% vs. 12%, P < 0.001) on the KPPQ.CONCLUSIONSMSA is associated with both non-specific and disease-related pain types, which may be neuropathic, nociceptive, nociplastic, or mixed in nature. These findings inform the development of tailored tools for identifying distinct pain sources in MSA, as each may require a specific therapeutic approach, including targeted treatment of motor and non-motor symptoms. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

背景：多达87%的多系统萎缩（MSA）患者受到疼痛的影响，但目前尚不清楚哪种类型的疼痛对总体负担的影响最大。目的了解MSA患者不同类型疼痛的发生频率。方法：2023年，MSA患者完成了一项基于网络的调查，其中包括金氏帕金森病疼痛问卷（KPPQ）和与MSA核心特征相关的疼痛问题（如衣架疼痛、膀胱问题引起的疼痛、四肢寒冷、瘀伤和压疮）。受访者按年龄、性别和疾病持续时间与以前完成过KPPQ的帕金森病（PD）患者和健康对照（n = 96）的历史队列相匹配。结果157名有疼痛的MSA患者完成了调查。最常见的KPPQ疼痛类型是夜间疼痛（73%）、肌肉骨骼疼痛（63%）和波动相关疼痛（62%）。常见的其他疼痛来源包括衣架疼痛（59%）、四肢寒冷（48%）和瘀伤（44%）。除肌肉骨骼疼痛外，MSA患者的所有KPPQ疼痛类型均明显高于健康对照组（63%对66%，P = 0.722）。与PD相比，MSA患者在KPPQ上报告的肌肉骨骼疼痛较少（63%对78%，P = 0.023），但口腔面部疼痛较多（32%对12%，P < 0.001）。结论smsa与非特异性和疾病相关的疼痛类型相关，可能是神经性、伤害性、伤害性或混合性。这些发现为确定MSA中不同疼痛源的定制工具的开发提供了信息，因为每种疼痛源都可能需要特定的治疗方法，包括针对运动和非运动症状的靶向治疗。©2026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》。©2026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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