Parkinsonism & related disorders最新文献

英文中文

Regional cerebral cholinergic vesicular transporter correlates of visual contrast sensitivity in Parkinson's disease: Implications for visual and cognitive function 区域脑胆碱能囊泡转运蛋白与帕金森病的视觉对比敏感性相关：对视觉和认知功能的影响

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107229

Taylor Brown , Prabesh Kanel , Alexis Griggs , Giulia Carli , Robert Vangel , Roger L. Albin , Nicolaas I. Bohnen

Visual and visual processing deficits are implicated in freezing, falling, and cognitive impairments in Parkinson's disease (PD). In particular, contrast sensitivity deficits are common and may be related to cognitive impairment in PD. While dopaminergic deficits play a role in PD-related visual dysfunction, brain cholinergic systems also modulate many aspects of visual processing. The aim of this study was to explore regional cerebral cholinergic terminal density correlates of contrast sensitivity in PD. Ninety-one PD subjects underwent contrast sensitivity testing, motor testing, cognitive testing, and brain MRI and [¹⁸F]-fluoroethoxybenzovesamicol [¹⁸F]-FEOBV PET imaging. Whole brain false discovery error-corrected (p < 0.05) correlations revealed significant associations between VAChT deficits in pericentral, limbic, and visual processing regions and contrast sensitivity performance, independent of disease duration and dopaminergic medication doses. These results suggest that brain cholinergic deficits correlate with contrast sensitivity deficits in PD. Additionally, decreased Rabin contrast sensitivity scores were associated with lower total scores in the Parkinson's Disease Cognitive Rating Scale. These findings suggest that diminished cognitive performance correlated with contrast sensitivity partly reflects underlying vulnerabilities of brain cholinergic systems.

视觉和视觉加工缺陷与帕金森病（PD）的冻结、跌倒和认知障碍有关。特别是，对比敏感性缺陷是常见的，可能与PD患者的认知障碍有关。虽然多巴胺能缺陷在pd相关的视觉功能障碍中起作用，但脑胆碱能系统也调节视觉加工的许多方面。本研究的目的是探讨局部脑胆碱能末端密度与PD对比敏感性的相关性。91例PD患者接受对比敏感度测试、运动测试、认知测试、脑MRI和[18F]-氟乙氧基苯并维酰胺[18F]-FEOBV PET成像。全脑错误发现错误纠正(p

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引用次数: 0

Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia kcnn2相关肌阵挛性肌张力障碍患者深部脑刺激效果不足。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2025.107260

Martje G. Pauly , Mirja Thomsen , Vera Tadic , Hauke Busch , Christel Depienne , Katja Lohmann , Christine Klein , Norbert Brüggemann

引用次数: 0

Is rapid eye movement sleep behavior disorder a marker of Parkinson's disease severity? 快速眼动睡眠行为障碍是帕金森病严重程度的标志吗？

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107258

Pérola de Oliveira , Sergio Henrique Rodolpho Ramalho , Bernardo Martins , Francisco Cardoso

Background

Parkinson's disease (PD) is characterized by motor and non-motor features. There are several proposed clinical markers to define disease severity. However, if rapid eye movement sleep behavior disorder (RBD) is associated with worse prognosis of both motor and non-motor findings in PD is unknown.

Objective

To determine whether RBD is a marker of PD clinical severity.

Methods

We cross-sectionally compared patients according to the presence of RBD and used Hoehn Yahr, Schwab and England (ADL), MDS-UPDRS, brain magnetic resonance, polysomnography and autonomic reactivity tests to evaluate PD stage and disability. Pairwise comparisons and regression techniques were used to investigate the association of PD clinical markers with RBD.

Results

We enrolled 120 PD patients. RBD was present in 46 % (n = 55; median age 65 years; 67 % male), who were compared to PD patients without RBD (n = 65, median age 62 years, 64 % male). There was also a healthy control group comprising 48 subjects (median age 57 years, 54 % male). Comparing PD patients with and without RBD, RBD was associated with higher MDS-UPDRS Part II scores [15(11–21) x 12(7–16), p = 0.02], higher frequency of abnormal gait (43,6 % x 21,5 %; p = 0.01), greater use of walking aids (21,8 % x 4,6 %; p = 0.005), greater dysautonomia (56,4 % x 47,7 %, p = 0.002) and osteoporosis [PR 1,64(1.37–1.96), p < 0.001) and lower ADL scores [80(80–90) x 90(80–90); p = 0.002],

Conclusion

The presence of RBD in PD patients was associated with indirect indicators of motor impairment, lower independence in ADL, possibly a higher frequency of dysautonomia and with a higher frequency of osteoporosis.

背景：帕金森病（PD）具有运动和非运动特征。有几种临床指标可用于确定疾病的严重程度。然而，快速眼动睡眠行为障碍（RBD）是否与帕金森病运动和非运动特征的较差预后相关尚不清楚：目的：确定快速眼动睡眠行为障碍是否是帕金森病临床严重程度的标志：我们根据RBD的存在情况对患者进行横断面比较，并使用Hoehn Yahr、Schwab和England（ADL）、MDS-UPDRS、脑磁共振、多导睡眠图和自主神经反应性测试来评估PD的分期和残疾情况。采用配对比较和回归技术研究了帕金森病临床指标与RBD的关联：我们招募了 120 名帕金森病患者。46%的患者存在RBD（n = 55；中位年龄65岁；67%为男性），他们与没有RBD的帕金森病患者（n = 65；中位年龄62岁；64%为男性）进行了比较。此外，还有一个由 48 名受试者组成的健康对照组（中位年龄为 57 岁，54% 为男性）。比较有 RBD 和无 RBD 的帕金森病患者，RBD 与较高的 MDS-UPDRS 第二部分评分 [15(11-21) x 12(7-16), p = 0.02]、较高的步态异常频率 (43,6 % x 21,5 %; p = 0.01）、更多使用助行器（21.8 % x 4.6 %；p = 0.005）、更多自律神经失调（56.4 % x 47.7 %，p = 0.002）和骨质疏松症[PR 1,64(1.37-1.96), p

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引用次数: 0

Co-stimulating the left vmPFC compensates for apathy after levodopa withdrawal in Parkinson's patients with STN DBS. 共同刺激左侧vmPFC补偿帕金森患者STN DBS左旋多巴停药后的冷漠。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107244

Jip de Bruin, Ki Sueng Choi, Helen S. Mayberg, Joohi Jimenez-Shahed, Christina A. Palmese, Juna Khang, Ha Neul Song, Brian H. Kopell, Martijn Figee

Introduction

Subthalamic nucleus deep brain stimulation (STN DBS) improves motor symptoms of Parkinson's disease (PD), but its effect on motivation is controversial. Apathy, the lack of motivation, commonly occurs in PD and is often exacerbated after surgery and its concomitant levodopa reduction. Apathy and reward processing are associated with the ventromedial prefrontal cortex (vmPFC), which standard targeting strategies avoid by targeting the dorsolateral STN. Since apathy can be a levodopa-responsive PD symptom, levodopa withdrawal could unmask apathy without sufficient stimulation of non-motor pathways, similar to the persistence of motor symptoms when motor pathways are underengaged with DBS.

Objective

Using an individualized tractography model, maximized left-sided vmPFC engagement following a DBS adjustment improved apathy in a case example. We, therefore, retrospectively investigated the moderating role of stimulation-related left-sided vmPFC connectivity and levodopa reduction on changes in apathy after STN DBS (N = 28).

Methods

We measured apathy (Starkstein Apathy Scale) and levodopa dose pre- and post-surgery. Stimulation-related connectivity was quantified using patient-specific diffusion-weighted MRI and probabilistic tractography to test the interaction with levodopa reduction.

Results

Effective DBS of the dorsolateral STN included prefrontal non-motor connections. We found a significant interaction between levodopa dose change and STN-connections to the left vmPFC. Apathy severity negatively correlated with stimulation-related connectivity to the left vmPFC in patients with greater levodopa reductions. Apathy change was unrelated to motor pathway connectivity.

Conclusion

Insufficient stimulation of the left vmPFC and associated limbic fronto-subthalamic connections combined with high levodopa reduction contributed to DBS-related apathy in PD, which may inspire novel personalized non-motor targeting strategies.

简介：丘脑下核深部脑刺激（STN DBS）可改善帕金森病（PD）的运动症状，但其对动机的影响存在争议。冷漠，缺乏动力，通常发生在PD中，并且经常在手术和伴随的左旋多巴减少后加剧。冷漠和奖励加工与腹内侧前额叶皮层（vmPFC）有关，而标准靶向策略通过靶向背外侧前额叶皮层来避免这一过程。由于冷漠可能是左旋多巴反应性PD症状，左旋多巴停药可以在没有充分刺激非运动通路的情况下揭示冷漠，类似于运动通路与DBS缺乏联系时运动症状的持续。目的：使用个体化牵拉图模型，在DBS调整后最大限度地利用左侧vmPFC改善冷漠。因此，我们回顾性地研究了刺激相关的左侧vmPFC连通性和左旋多巴减少对STN DBS后冷漠变化的调节作用（N = 28）。方法：采用斯塔克斯坦冷漠量表（Starkstein apathy Scale）测量患者术前、术后的冷漠程度和左旋多巴剂量。使用患者特异性弥散加权MRI和概率神经束造影来量化刺激相关连通性，以测试与左旋多巴减少的相互作用。结果：STN背外侧有效DBS包括前额叶非运动连接。我们发现左旋多巴剂量变化与左侧vmPFC的stn连接之间存在显著的相互作用。在左旋多巴减少的患者中，冷漠严重程度与刺激相关的左vmPFC连接负相关。冷漠改变与运动通路连通性无关。结论：左侧vmPFC和相关的边缘额下丘脑连接刺激不足，并伴有左旋多巴的大量减少，是PD患者dbs相关冷漠的原因之一，这可能激发新的个性化非运动靶向策略。

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引用次数: 0

Vacuolar protein sorting 13 homolog C was associated with motor progression in Parkinson's disease 液泡蛋白分选13同源物C与帕金森病的运动进展相关。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107253

Xin Guo , Bin Teng , Jianfang Ma

Introduction

The SNP rs2414739 of Vacuolar protein sorting 13 homolog C(VPS13C) gene was identified to be linked with Parkinson's Disease (PD).

Objectives

Explore the clinical progression feature of PD patients with rs2414739 variant.

Methods

Longitudinal data were obtained from the Parkinson's Progression Marker Initiative (PPMI) cohorts. Linear mixed models were used to test the effects of VPS13C with the progression of PD assessed by different scales.

Result

A total of 333 patients with PD were included and divided into rs2414739 carriers (n = 138) and noncarriers (n = 195). Patients with PD carrying VPS13C mutation had slower progression, assessed by total scores of MDS-UPDRS (II+III) (β = −1.834, p = 0.000, 95%CI: −2.767, −0.901) than noncarriers. The effect of VPS13C was significant both in the rate of change of UPDRS-II scores (β = −0.284, p = 0.028, 95%CI: −0.537, −0.031) and UPDRS-III scores (β = −0.894, p = 0.009, 95%CI: −1.558, −0.228). We further divided VPS13C carriers into heterozygous and homozygous carriers, and found that the rate of change of UPDRS(II+III) (β = −1.165, p = 0.039, 95%CI: −2.265,−0.062) scores and UPDRS-III scores (β = −9.521, p = 0.041, 95%CI: −18.524,−0.532) were significantly slow in heterozygous VPS13C carriers. There was only 20 homozygous VPS13C carriers, which was too small a sample to perform the analysis.

Conclusion

VPS13C was associated with slow motor progression in PD patients.

摘要：液泡蛋白分选13同源基因C(VPS13C) SNP rs2414739与帕金森病（PD）相关。目的：探讨rs2414739基因变异PD患者的临床进展特征。方法：从帕金森病进展标志物倡议（PPMI）队列中获得纵向数据。采用线性混合模型检验VPS13C对不同量表PD进展的影响。结果：共纳入333例PD患者，分为rs2414739例携带者（n = 138）和非携带者（n = 195）。通过MDS-UPDRS （II+III）总分（β = -1.834, p = 0.000, 95%CI: -2.767, -0.901）评估，携带VPS13C突变的PD患者比非携带者进展较慢。VPS13C对UPDRS-II评分的变化率（β = -0.284, p = 0.028, 95%CI: -0.537, -0.031）和UPDRS-III评分的变化率（β = -0.894, p = 0.009, 95%CI: -1.558, -0.228）均有显著影响。我们进一步将VPS13C携带者分为杂合型和纯合型，发现杂合型VPS13C携带者UPDRS（II+III）评分（β = -1.165, p = 0.039, 95%CI: -2.265,-0.062）和UPDRS-III评分（β = -9.521, p = 0.041, 95%CI: -18.524,-0.532）的变化率明显较慢。VPS13C纯合载体只有20个，样本量太小，无法进行分析。结论：VPS13C与PD患者运动缓慢进展相关。

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引用次数: 0

Glymphatic system in Pantothenase kinase associated neurodegeneration (PKAN) 泛酸激酶相关神经退行性变（PKAN）中的淋巴系统。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107252

Peter Stoeter , Diones Rivera , Pedro Roa , Herwin Speckter , Cesarina Torres

Purpose

To investigate if accumulation of iron in the globus pallidus as seen in patients suffering from Pantothenase Kinase Associated Neurodegeneration (PKAN), is related to damage of the cerebral glymphatic system.

Material and methods

In a group of 24 patients and an age-matched control group, functionality of the glymphatic system was assessed by the index of Analysis aLong the Perivascular Space (ALPS) from Diffusion Tensor Imaging data and correlated to the values of the T2∗ Times of the globus pallidus and the cerebral white matter measured by a Fast Field Echo sequence.

Results

In spite of the important reduction of the T2∗ Time of the globus pallidus, ALPS values of patients and controls were very similar and did not correlate to T2∗Time values in either group.

Conclusion

In spite of a prominent accumulation of iron in the globus pallidus of PKAN patients, which is responsible for the “eye-of-the-tiger” sign, our results are not compatible with malfunction of their glymphatic system. Obviously, increased iron content of globus pallidus alone does not necessarily indicate such sort of alteration.

目的：探讨泛酸激酶相关神经退行性变（PKAN）患者苍白球铁积累是否与脑淋巴系统损伤有关。材料与方法：选取24例患者和年龄匹配的对照组，采用弥散张量成像（Diffusion Tensor Imaging，弥散张量成像）数据中的沿血管周围间隙分析（Analysis aLong the Perivascular Space， ALPS）指标评估淋巴系统功能，并与快速场回波序列测量的苍白球和脑白质T2 * Times值相关。结果：尽管苍白球的T2∗Time显著降低，但患者和对照组的ALPS值非常相似，且与两组的T2∗Time值无关。结论：尽管PKAN患者的苍白球中有明显的铁积累，这是“虎眼”标志的原因，但我们的结果与他们的淋巴系统功能障碍不相容。显然，单是苍白球铁含量的增加并不一定表明这种改变。

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引用次数: 0

Late-onset chorea as first manifestation of cerebral amyloid angiopathy 迟发性舞蹈病是脑淀粉样血管病的第一表现。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107225

Daniel López Domínguez , Berta Alemany Perna , Gary Álvarez Bravo

引用次数: 0

The α-synuclein seed amplification assay: Interpreting a test of Parkinson's pathology α-突触核蛋白种子扩增试验：解释帕金森病病理试验。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107256

Alberto J. Espay , Andrew J. Lees , Francisco Cardoso , Steven J. Frucht , Daniel Erskine , Ivette M. Sandoval , Luis Daniel Bernal-Conde , Andrea Sturchio , Alberto Imarisio , Christian Hoffmann , Kora T. Montemagno , Dragomir Milovanovic , Glenda M. Halliday , Fredric P. Manfredsson

The α-synuclein seed amplification assay (αSyn-SAA) sensitively detects Lewy pathology, the amyloid state of α-synuclein, in the cerebrospinal fluid (CSF) of patients with Parkinson's disease (PD). The αSyn-SAA harnesses the physics of seeding, whereby a superconcentrated solution of recombinant α-synuclein lowers the thermodynamic threshold (nucleation barrier) for aggregated α-synuclein to act as a nucleation catalyst (“seed”) to trigger the precipitation (nucleation) of monomeric α-synuclein into pathology. This laboratory setup increases the signal for identifying a catalyst if one is present in the tissue examined. The result is binary: positive, meaning precipitation occurred, and a catalyst is present, or negative, meaning no precipitation, therefore no catalyst. Since protein precipitation via seeding can only occur at a concentration many-fold higher than the human brain, laboratory-elicited seeding does not mean human brain seeding. We suggest that a positive αSyn-SAA reveals the presence of pathological α-synuclein but not the underlying etiology for the precipitation of monomeric α-synuclein into its pathological form. Thus, a positive αSyn-SAA supports a clinical diagnosis of PD but cannot inform disease pathogenesis, ascertain severity, predict the rate of progression, define biology or biological subtypes, or monitor treatment response.

α-突触核蛋白种子扩增试验（αSyn-SAA）可灵敏检测帕金森病（PD）患者脑脊液（CSF）中α-突触核蛋白淀粉样蛋白状态的Lewy病理。αSyn-SAA利用了种子的物理性质，即重组α-synuclein的超浓缩溶液降低了聚集α-synuclein的热力学阈值（成核屏障），从而作为成核催化剂（“种子”）触发单体α-synuclein的沉淀（成核）进入病理状态。这种实验室设置增加了识别催化剂的信号，如果一个存在于被检查的组织。结果是二元的：正的，意味着发生了沉淀，并且有催化剂存在；负的，意味着没有沉淀，因此没有催化剂。由于通过播种的蛋白质沉淀只能发生在浓度比人脑高许多倍的情况下，因此实验室诱导的播种并不意味着人脑播种。我们认为αSyn-SAA阳性揭示了病理性α-突触核蛋白的存在，而不是单体α-突触核蛋白沉淀成病理性形式的潜在病因。因此，αSyn-SAA阳性支持PD的临床诊断，但不能告知疾病发病机制，确定严重程度，预测进展速度，定义生物学或生物学亚型，或监测治疗反应。

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引用次数: 0

Comment on “The use of hypoglycemic drugs in Parkinson's disease: An updated meta-analysis of randomized controlled trials” 《帕金森病降糖药物的使用：随机对照试验的最新荟萃分析》评论

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107223

Luis Otávio Nogueira, Dayany Leonel Boone

引用次数: 0

Authors' reply to “Perfection is the enemy of good - A Letter to the editor on "Orthostatic hypotension in Parkinson's disease: Sit-to-stand vs. supine-to-stand protocol and clinical correlates” 作者对 "完美是优秀的敌人--致编辑的一封信：帕金森病的直立性低血压：从坐到站与从仰卧到站的方案和临床相关性"。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107221

Shen-Yang Lim, Kai Bin Lim, Jia Wei Hor, Ai Huey Tan

引用次数: 0

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