Movement Disorders最新文献_第5页

Movement Disorders: Volume 40, Number 1, January 2025 运动障碍：第40卷，第1期，2025年1月

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-22 DOI: 10.1002/mds.30122

引用次数: 0

Gait Video–Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks 基于步态视频的小脑共济失调严重程度深度神经网络预测

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-22 DOI: 10.1002/mds.30113

Katsuki Eguchi, Hiroaki Yaguchi, Hisashi Uwatoko, Yuki Iida, Shinsuke Hamada, Sanae Honma, Asako Takei, Fumio Moriwaka, Ichiro Yabe

BackgroundPose estimation algorithms applied to two‐dimensional videos evaluate gait disturbances; however, a few studies have used this method to evaluate ataxic gait.ObjectiveThe aim was to assess whether a pose estimation algorithm can predict the severity of cerebellar ataxia by applying it to gait videos.MethodsWe video‐recorded 66 patients with degenerative cerebellar diseases performing the timed up‐and‐go test. Key points from the gait videos extracted by a pose estimation algorithm were input into a deep learning model to predict the Scale for the Assessment and Rating of Ataxia (SARA) score. We also evaluated video segments that the model focused on to predict ataxia severity.ResultsThe model achieved a root‐mean‐square error of 2.30 and a coefficient of determination of 0.79 in predicting the SARA score. It primarily focused on standing, turning, and body sway to assess severity.ConclusionsThis study demonstrated that the model may capture gait characteristics from key‐point data and has the potential to predict SARA scores. © 2025 International Parkinson and Movement Disorder Society.

背景姿态估计算法应用于二维视频评估步态干扰；然而，很少有研究使用这种方法来评估共济失调步态。目的将姿态估计算法应用于步态视频，评估姿态估计算法能否预测小脑性共济失调的严重程度。方法对66例退行性小脑疾病患者进行定时up - and - go测试。将姿态估计算法提取的步态视频中的关键点输入到深度学习模型中，以预测共济失调（SARA）评分的评估和评级量表。我们还评估了模型关注的视频片段，以预测共济失调的严重程度。结果该模型预测SARA评分的均方根误差为2.30，决定系数为0.79。它主要集中在站立，转身和身体摇摆来评估严重程度。本研究表明，该模型可以从关键点数据中捕获步态特征，并具有预测SARA评分的潜力。©2025国际帕金森和运动障碍学会。

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引用次数: 0

Welcoming 2025 and a New Editorial Term 欢迎2025年和一个新的编辑任期。

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-22 DOI: 10.1002/mds.30106

A. Jon Stoessl CM, MD, FRCPC, FCAHS

引用次数: 0

Essential Tremor Suppression with a Novel Anti-Tremor Orthosis: A Randomized Crossover Trial. 一种新型抗震颤矫形器抑制特发性震颤：一项随机交叉试验。

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-21 DOI: 10.1002/mds.30082

Winfred Mugge, Liset E M Elstgeest, Milan van Ginkel, Lucas Pol, IJsbrand de Lange, Nicola Pambakian, Alvaro Assis de Souza, Rick C Helmich, Daan J Kamphuis

Background: Essential tremor (ET) is characterized by action tremor of the arms, which can interfere substantially with daily activities. Pharmacotherapy may be ineffective or associated with side effects, and stereotactic surgery is invasive. Hence, new accessible treatment options are urgently needed. An easy-to-use and lightweight orthotic device that exerts joint damping may provide an alternative solution for reducing tremor in daily activities.

Objective: Our goal was to assess the efficacy of a novel anti-tremor orthosis (STIL) in reducing clinical and accelerometry measures of distal arm tremor in ET.

Methods: In a randomized crossover single-blinded trial in 24 ET patients in a hospital setting, we compared three conditions: no orthosis (baseline), a sham device, and the anti-tremor orthosis (order randomized). The orthosis, but not the sham device, passively damped joints in the forearm. Participants performed seven tasks from the Tremor Research Group Essential Tremor Rating Scale (TETRAS). The two co-primary outcome measures were: clinical tremor severity (video-scored TETRAS) and tremor power (accelerometry). Patient satisfaction was self-assessed using the Dutch Quebec User Evaluation of Satisfaction with assistive Technology. Conditions were compared using Wilcoxon signed-rank tests.

Results: The anti-tremor orthosis significantly reduced TETRAS scores compared to sham and baseline (baseline: 19.0 ± 3.2, sham: 13.7 ± 3.9, orthosis: 9.9 ± 3.6; mean ± standard deviation). Similar effects were observed for tremor power, which was reduced by 87.4% (orthosis vs. baseline) and 59.5% (orthosis vs. sham) across all tasks. A total of 71% of participants were (very) satisfied and 12.5% reported minor adverse events (discomfort/redness of skin).

Conclusion: The anti-tremor orthosis had a clinically relevant tremor-reducing effect in ET in a controlled setting, offering potential for a new treatment to manage ET in daily activities. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

背景：特发性震颤（ET）的特征是手臂的动作性震颤，它可以严重干扰日常活动。药物治疗可能无效或伴有副作用，立体定向手术是侵入性的。因此，迫切需要新的可获得的治疗方案。一种易于使用且重量轻的矫形器可以施加关节阻尼，为减少日常活动中的震颤提供了另一种解决方案。目的：我们的目的是评估一种新型抗震颤矫形器（STIL）在减少ET远端手臂震颤的临床和加速度测量方面的疗效。方法：在一项随机交叉单盲试验中，我们在医院环境中对24例ET患者进行了三种情况的比较：无矫形器（基线），假装置和抗震颤矫形器（顺序随机）。矫形器，而不是假装置，被动地抑制前臂关节。参与者执行震颤研究小组基本震颤评定量表（TETRAS）中的七项任务。两个共同的主要结局指标是：临床震颤严重程度（视频评分的TETRAS）和震颤功率（加速度计）。使用荷兰魁北克辅助技术用户满意度评估对患者满意度进行自我评估。使用Wilcoxon符号秩检验比较条件。结果：与假手术和基线相比，抗震颤矫形器显著降低了TETRAS评分(基线：19.0±3.2，假手术：13.7±3.9，矫形器：9.9±3.6；平均值±标准差)。在所有任务中，震颤功率也观察到类似的效果，减少了87.4%（矫形器与基线）和59.5%（矫形器与假手术）。共有71%的参与者（非常）满意，12.5%的参与者报告了轻微的不良事件（不适/皮肤发红）。结论：在控制环境下，抗震颤矫形器对ET具有临床相关的震颤减少作用，为管理日常活动中的ET提供了一种新的治疗方法。©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

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene 听力损失家族与BCAP31基因新变异相关的X连锁共济失调综合征

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-20 DOI: 10.1002/mds.30116

Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson

ObjectivePathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca2+) concentration. Here, we characterize an X‐linked syndrome, its underlying genotype, and a functional evaluation of the identified candidate genetic variant.MethodsEvaluation of motor features, neuroimaging studies, neurophysiological, and cognitive tests. Whole exome sequencing (WES) was applied, a plasmid encoding BCAP31 with and without a candidate variant was transfected into SH‐SY5Y cells to assess subcellular location and to measure Ca2+ levels in the cytoplasm.ResultsAdult‐onset ataxia, cognitive impairment, and hearing loss leading to deafness are the predominant features. Reduced penetrance, slow progression with preserved ability to walk in advance age, and universal cerebellar atrophy are other features for this syndrome. This condition is associated with the new variant c.22G>A (V8I) in BCAP31 at Xq28. The subcellular location of the V8I BCAP31 protein was not altered but caused significant elevation of cytosolic Ca2+.ConclusionsOur findings expand the spectrum of variants in BCAP31 from neurodevelopmental syndromes to include a progressive neurodegenerative disease with variable expressivity. This is the first time ataxia is described in association with a BCAP31 variant and functional evidence of pathogenicity is provided. Additional BCAP31 cases featuring ataxia are needed to establish an association. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

目的：B细胞受体相关蛋白（BCAP31）的致病变异与X连锁、耳聋、肌张力障碍和脑髓鞘退化（DDCH）综合征有关。DDCH是先天性和非进行性的，以严重的智力残疾（ID）、可变畸形为特征，有时与生存期缩短有关。BCAP31编码最丰富的伴侣之一，具有多种功能，包括作为内质网钙离子（Ca2+）浓度的负调节因子。在这里，我们描述了一种X连锁综合征，其潜在的基因型，并对确定的候选遗传变异进行了功能评估。方法运动特征评估、神经影像学检查、神经生理学和认知测试。应用全外显子组测序（WES），将编码BCAP31的质粒转染到SH‐SY5Y细胞中，以评估亚细胞位置并测量细胞质中的Ca2+水平。结果成人发病的共济失调、认知障碍和听力损失导致耳聋是主要特征。外显率降低，进展缓慢，老年时保留行走能力，以及普遍的小脑萎缩是该综合征的其他特征。这种情况与BCAP31在Xq28的新变体c.22G>A （V8I）有关。V8I BCAP31蛋白的亚细胞位置没有改变，但引起细胞质Ca2+的显著升高。结论我们的发现扩大了BCAP31基因变异的范围，包括神经发育综合征的进行性神经退行性疾病。这是首次将共济失调与BCAP31变异联系起来，并提供了致病性的功能证据。需要更多以共济失调为特征的BCAP31病例来建立关联。©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

It Takes Guts: A Novel Model for Gut-to-Brain Propagation of Alpha-Synuclein and Tau 需要勇气：一种新的α -突触核蛋白和Tau蛋白从肠道到大脑的传播模型

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-18 DOI: 10.1002/mds.30124

Kasandra Scholz BS, Talene A. Yacoubian MD, PhD

引用次数: 0

Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients. 静态姿势不稳定作为3型脊髓小脑性共济失调前运动异常的敏感生物标志物。

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-18 DOI: 10.1002/mds.30118

Mao-Lin Cui,Xia-Hua Liu,Ying Li,Wei Lin,Hao-Ling Xu,Nan-Nan Zhang,Min-Ting Lin,Ning Wang,Jun Ni,Shi-Rui Gan,

BACKGROUNDSpinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients.OBJECTIVESOur research aims to identify appropriate postural characteristics for tracking motor changes in pre-ataxic patients with SCA3 over time.METHODSThe posturographic platform assessed 102 participants (34 pre-ataxic SCA3 patients, 34 ataxic patients with SCA3, and 34 healthy controls) to measure their postural balance. Multivariate comparative analyses assessed the differential postural characteristics across the three groups. The Taiwanese formula was employed to estimate the age of onset for pre-ataxic patients. A Spearman's rho test was employed to assess correlations between postural characteristics and the time manifestation for pre-ataxic patients.RESULTSCompared to the healthy control group, we observed significant abnormalities in the static posture of pre-ataxic patients (P < 0.01). Compared to the pre-ataxic group, ataxic patients have significant abnormalities in all variables (P < 0.05). The sway range standard deviation (SD), total sway area, and limits of stability were positively correlated with the estimated time to onset. The total sway area is more closely associated with time to manifestation, whereas the sway range SD in the medial-lateral direction of the center of foot pressure is the most sensitive indicator of postural instability in pre-ataxic patients.CONCLUSIONStatic posture instability is a sensitive diagnostic parameter that may assist in capturing disease progression in the pre-ataxic stage of SCA3. © 2025 International Parkinson and Movement Disorder Society.

背景脊髓小脑性共济失调3型（SCA3）是一种神经退行性疾病，以平衡不稳定为特征。平衡不稳定常在患者出现明显的共济失调症状之前出现。然而，目前的临床量表在表征共济失调前患者的变化方面表现出有限的敏感性。我们的研究旨在确定适当的姿势特征，以跟踪SCA3共济失调前患者随时间的运动变化。方法姿势测量平台评估了102名参与者（34名共济失调前SCA3患者，34名共济失调合并SCA3患者和34名健康对照）的姿势平衡。多变量比较分析评估了三组患者不同的体位特征。采用台湾公式估计心梗前患者的发病年龄。采用Spearman’s rho检验评估体位特征与心衰前患者时间表现之间的相关性。结果与健康对照组相比，共济失调前患者静姿有显著差异（P < 0.01）。与共济失调前组相比，共济失调患者各项指标均有显著异常（P < 0.05）。摇摆范围标准差（SD）、总摇摆面积和稳定性极限与估计的发病时间呈正相关。总摆动面积与出现时间密切相关，而足压中心内侧外侧方向的摆动范围SD是共济失调前患者体位不稳定的最敏感指标。结论静态体位不稳定是一个敏感的诊断参数，可以帮助捕捉SCA3共济失调前阶段的疾病进展。©2025国际帕金森和运动障碍学会。

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引用次数: 0

Central Involvement in Pure Autonomic Failure: Insights from Neuromelanin‐Sensitive Magnetic Resonance Imaging and 18F‐Fluorodopa‐Positron Emission Tomography 中枢参与纯粹自主神经衰竭：来自神经黑色素敏感磁共振成像和18F -氟多巴-正电子发射断层扫描的见解

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-18 DOI: 10.1002/mds.30119

Paula Trujillo, Kaitlyn R. O'Rourke, Olivia C. Roman, Alexander K. Song, Kilian Hett, Amy Cooper, Bonnie K. Black, Manus J. Donahue, Cyndya A. Shibao, Italo Biaggioni, Daniel O. Claassen

BackgroundCentral synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), involve alpha‐synuclein accumulation and dopaminergic cell loss in the substantia nigra (SN) and locus coeruleus (LC). Pure autonomic failure (PAF), a peripheral synucleinopathy, often precedes central synucleinopathies.ObjectivesTo assess early brain involvement in PAF using neuromelanin‐sensitive magnetic resonance imaging (NM‐MRI) and fluorodopa‐positron emission tomography (FDOPA‐PET), and to determine whether PAF patients with a high likelihood ratio (LR) for conversion to a central synucleinopathy exhibit reduced NM‐MRI contrast in the LC and SN compared with controls and low‐LR patients.MethodsParticipants with PAF (n = 23) were categorized as high‐LR (n = 13) or low‐LR (n = 10) for conversion to central synucleinopathy. Additional participants included PD (n = 22), DLB (n = 8), and age‐ and sex‐matched healthy controls (n = 23). NM‐MRI at 3 T was used to quantify contrast ratios in the LC and SN, while FDOPA‐PET measured presynaptic dopamine synthesis. Linear regression analyses, adjusted for age and sex, were used to compare NM‐MRI contrast across groups.ResultsHigh‐LR PAF patients showed reduced contrast in the LC and SN compared with controls and low‐LR PAF patients, with values similar to PD and DLB. The NM‐MRI contrast in the SN correlated with dopamine uptake in the striatum. Longitudinal imaging in PAF patients (n = 6) demonstrated reduced NM‐MRI and PET values in individuals who developed central synucleinopathies.ConclusionsNM‐MRI and FDOPA‐PET may serve as potential biomarkers for early brain involvement and predicting progression to central synucleinopathies in PAF and could help identify patients for early intervention. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

中枢突触核蛋白病，包括帕金森病（PD）、路易体痴呆（DLB）和多系统萎缩（MSA），涉及黑质（SN）和蓝斑（LC）的α -突触核蛋白积累和多巴胺能细胞损失。纯自主神经衰竭（PAF）是一种外周突触核蛋白病，常先于中枢突触核蛋白病。目的利用神经黑色素敏感磁共振成像（NM‐MRI）和氟多巴正电子发射断层扫描（FDOPA‐PET）评估PAF的早期脑受损伤，并确定与对照组和低LR患者相比，具有高似然比（LR）转换为中枢突触核蛋白病的PAF患者在LC和SN中的NM‐MRI对比是否降低。方法PAF患者（n = 23）被分为高LR组（n = 13）和低LR组（n = 10）。其他参与者包括PD （n = 22）、DLB （n = 8）和年龄和性别匹配的健康对照（n = 23）。3t时使用NM‐MRI量化LC和SN的对比度，而FDOPA‐PET测量突触前多巴胺合成。采用线性回归分析，调整年龄和性别，比较各组之间的NM - MRI对比。结果与对照组和低LR PAF患者相比，高LR PAF患者LC和SN的对比度降低，其值与PD和DLB相似。SN的NM - MRI对比与纹状体的多巴胺摄取相关。PAF患者（n = 6）的纵向成像显示，中枢性突触核蛋白病患者的NM - MRI和PET值降低。结论snm‐MRI和FDOPA‐PET可能是PAF早期脑受损伤和预测中枢性突触病进展的潜在生物标志物，有助于识别早期干预的患者。©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

Magnetic Resonance–Guided Focused Ultrasound Thalamotomy in a Prospective Cohort of 52 Patients with Parkinson's Disease: A Possible Critical Role of Age and Lesion Volume for Predicting Tremor Relapse 磁共振引导的聚焦超声丘脑切开术对52名帕金森病患者的前瞻性队列：年龄和病变体积可能在预测震颤复发方面发挥关键作用

IF 8.6 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-18 DOI: 10.1002/mds.30093

Arianna Braccia, Nico Golfrè Andreasi, Francesco Ghielmetti, Domenico Aquino, Anna Paola Savoldi, Roberto Cilia, Roberta Telese, Fabiana Colucci, Gianfranco Gaudiano, Luigi Michele Romito, Antonio Emanuele Elia, Valentina Leta, Vincenzo Levi, Nicolò Castelli, Grazia Devigili, Sara Rinaldo, Mario Stanziano, Valentina Caldiera, Marina Grisoli, Elisa Francesca Maria Ciceri, Roberto Eleopra

BackgroundMagnetic resonance–guided focused ultrasound (MRgFUS) thalamotomy of ventral intermediate (Vim) nucleus is useful to treat drug‐resistant tremor‐dominant Parkinson's disease (TdPD), but tremor relapse may occur. Predictors of relapse have been poorly investigated so far.ObjectiveThe aim of this study is to evaluate the role of clinico‐demographic, procedural, and neuroradiological variables in determining clinical response, relapse, and adverse events (AEs) in TdPD after MRgFUS Vim‐thalamotomy.MethodsFifty‐two TdPD patients who consecutively underwent unilateral MRgFUS Vim‐thalamotomy were prospectively evaluated at baseline and after 24 hours, 1 month, 6 months, and 12 months using MDS‐UPDRS‐III in off and on medication conditions. AEs were collected at each evaluation. Lesion volume was calculated at 24‐hour magnetic resonance imaging (MRI). Patients with tremor improvement <30% in off medication were considered nonresponders (when detected after 24 hours) or relapsers (if detected from 1‐month visit onward).ResultsAll patients showed tremor improvement >30% at 24 hours. Tremor relapse occurred in 12 patients (23%), exclusively during the first month after thalamotomy. Relapse was associated with younger age (P = 0.030) and smaller lesion volume (P = 0.030). At 1 month, 22 patients (42%) had AEs; at 6 and 12 months, AEs persisted in 19% and 6% of cases. AEs at 6 months were associated with larger lesions (P = 0.018). All AEs were mild.ConclusionsMRgFUS Vim‐thalamotomy is effective in treating tremor in TdPD. Relapse is associated with younger age and smaller lesion volume, but larger lesions make AEs more likely to persist. We suggest that a lesion volume between 145 and 220 mm3 on T1‐weighted MRI may be the therapeutic window that ensures tremor control without long‐lasting AEs. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

背景磁共振引导聚焦超声（MRgFUS）腹侧中间核（Vim）丘脑切开术是治疗耐药性震颤主导型帕金森病（TdPD）的有效方法，但震颤可能会复发。到目前为止，对复发的预测因素研究甚少。目的本研究的目的是评估临床人口学、程序和神经影像学变量在MRgFUS Vim - thalomtomy后TdPD的临床反应、复发和不良事件（ae）中的作用。方法：52例连续接受单侧MRgFUS Vim - thalamtomy的TdPD患者在基线、24小时、1个月、6个月和12个月后，在停药和服药条件下，使用MDS - UPDRS - III进行前瞻性评估。每次评价时收集ae。在24小时磁共振成像（MRI）中计算病变体积。停药后震颤改善30%的患者被认为无反应（24小时后检测到）或复发（1个月后检测到）。结果所有患者24小时震颤改善30%。12例患者（23%）发生震颤复发，全部发生在丘脑切除术后的第一个月。复发与年龄小（P = 0.030）和病灶体积小（P = 0.030）相关。1个月时，22例患者（42%）出现不良反应；在6个月和12个月时，不良反应发生率分别为19%和6%。6个月时ae与较大的病变相关（P = 0.018）。所有的ae都是温和的。结论smrgfus - Vim - thalomtomy治疗TdPD患者震颤有效。复发与年龄较小和病灶体积较小有关，但较大的病灶使ae更有可能持续存在。我们建议在T1加权MRI上，病变体积在145 - 220 mm3之间可能是确保震颤控制而不发生长期ae的治疗窗口。©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

New Multiomic Studies Shed Light on Cellular Diversity and Neuronal Susceptibility in Parkinson's Disease. 新的多组学研究揭示了帕金森病的细胞多样性和神经元易感性。

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY

Movement Disorders

Pub Date : 2025-01-15 DOI: 10.1002/mds.30097

Marianna Liang, Linh Chu, Zhenyu Yue

Parkinson's disease is a complex neurodegenerative disorder characterized by degeneration of dopaminergic neurons, with patients manifesting varying motor and nonmotor symptoms. Previous studies using single-cell RNA sequencing in rodent models and humans have identified distinct heterogeneity of neurons and glial cells with differential vulnerability. Recent studies have increasingly leveraged multiomics approaches, including spatial transcriptomics, epigenomics, and proteomics, in the study of Parkinson's disease, providing new insights into pathogenic mechanisms. Continued advancements in experimental technologies and sophisticated computational tools will be essential in uncovering a network of neuronal vulnerability and prioritizing disease modifiers for novel therapeutics development. © 2025 International Parkinson and Movement Disorder Society.

帕金森病是一种以多巴胺能神经元变性为特征的复杂神经退行性疾病，患者表现出不同的运动和非运动症状。先前在啮齿动物模型和人类中使用单细胞RNA测序的研究已经确定了具有不同易损性的神经元和神经胶质细胞的明显异质性。最近的研究越来越多地利用多组学方法，包括空间转录组学、表观基因组学和蛋白质组学，在帕金森病的研究中，为致病机制提供了新的见解。实验技术和复杂计算工具的持续进步对于揭示神经易感性网络和优先考虑疾病调节剂以开发新的治疗方法至关重要。©2025国际帕金森和运动障碍学会。

引用次数: 0