Clinical Parkinsonism Related Disorders最新文献_第6页

Long term (TEN YEARS) follow-up in a trembling patient with parkinsonian signs without dopaminergic denervation 长期（10年）随访震颤患者帕金森症状无多巴胺能去神经

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100371

Luca Angelini , Giulia Paparella , Petra Schwingenschuh , Rick C.G. Helmich , Matteo Bologna

Some patients presenting with Parkinson’s disease (PD)-like features do not exhibit dopaminergic denervation, complicating clinical categorization. This case report describes a patient with a long-standing upper limb action tremor accompanied by parkinsonian signs, but without evidence of dopaminergic denervation, followed over an extended period of ten years. The case highlights the diagnostic challenges and underscores the importance of longitudinal observation in such atypical presentations.

A 76-year-old man with tremor and parkinsonian features was followed for ten years with clinical observation, video recordings, kinematic movement analysis, and structural and functional neuroimaging, including DaT-SPECT.

Clinical and kinematic evaluations revealed asymmetric upper limb action tremor, inconstant rest tremor, bradykinesia with sequence effect, re-emergent tremor, and progressive motor symptoms. Over time, tremor extended to cranial regions, and mild dystonic postures emerged. Structural neuroimaging ruled out secondary causes, and DaT-SPECT remained negative despite symptom progression. Dopaminergic therapy was ineffective, while propranolol and clonazepam provided partial relief.

This case highlights that parkinsonian motor features − such as re-emergent tremor and bradykinesia with sequence effect − can manifest and progress over time in patients with tremor, even in the absence of dopaminergic denervation. These findings underscore the need for further research into the role of the dopaminergic system in trembling patients. Moreover, they emphasize the importance of long-term follow-up and the integration of biomarkers to enhance the characterization and diagnostic accuracy of tremor syndromes.

一些表现为帕金森病（PD）样特征的患者不表现为多巴胺能去神经支配，使临床分类复杂化。本病例报告描述了一个长期上肢震颤伴有帕金森症状的患者，但没有证据表明多巴胺能失神经支配，随访时间延长了十年。该病例强调了诊断的挑战，并强调了纵向观察在这种非典型表现的重要性。我们对一名患有震颤和帕金森特征的76岁男性进行了10年的临床观察、视频记录、运动学运动分析、结构和功能神经成像（包括DaT-SPECT）。临床和运动学评估显示不对称上肢行动性震颤，不恒定的休息性震颤，运动迟缓伴序列效应，再发震颤和进行性运动症状。随着时间的推移，震颤扩展到颅骨区域，并出现轻度肌张力障碍。结构神经成像排除了继发性原因，尽管症状有所进展，但DaT-SPECT仍呈阴性。多巴胺能治疗无效，而心得安和氯硝西泮可部分缓解。本病例强调帕金森运动特征，如再发性震颤和运动迟缓伴序列效应，可以在震颤患者中表现出来并随着时间的推移而进展，即使没有多巴胺能去神经支配。这些发现强调需要进一步研究多巴胺能系统在颤抖患者中的作用。此外，他们强调了长期随访和生物标志物整合的重要性，以提高震颤综合征的表征和诊断准确性。

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引用次数: 0

Differences between patient- and therapist-rated working alliance and their relationships with physical rehabilitation outcomes in individuals with Parkinson’s disease 帕金森病患者与治疗师评定的工作联盟的差异及其与身体康复结果的关系

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100349

Keita Sue , Kazumi Sakurai , Daiki Usuda , Katsuyuki Kobayashi , Keiko Nakamura , Tomomi Kinoshita , Kimito Momose

Introduction

Working Alliance (WA) significantly influences therapeutic success in psychotherapy or rehabilitation for musculoskeletal problems. The perception of WA often differs between patients and therapists. However, little is known about WA in patients with Parkinson’s disease (PD) and its relationship with clinical outcomes following physical rehabilitation. This study aimed to examine the differences in WA between patients and physical therapists in the early phase of a physical rehabilitation program and explore their relationships with improvements in gait-related assessments.

Methods

Twenty-one patients with PD who participated in the Lee Silverman Voice Treatment BIG program were included. Gait-related assessments, which included gait speed at 10-meter walking test (10-MWT) and timed up & go, were conducted before and after the program. WA was assessed using Working Alliance Inventory (WAI) for both patients and therapists after the completion of the fifth session. The difference between patient- and therapist-rated WAI was analyzed using an unpaired t-test. Correlational analyses between both patient- and therapist-rated WAI scores and improvement rates in gait-related assessments were also performed.

Results

Patients rated WAI scores significantly higher than therapists. Only patient-rated WAI scores were correlated with improvement rates in gait speed on 10-MWT, while therapist-rated WAI showed no significant correlation.

Conclusion

The results suggest patients with PD perceived WA higher than therapists in the early phase of rehabilitation, and patients’ perceptions may influence functional improvements in rehabilitation.

工作联盟（WA）显著影响肌肉骨骼问题的心理治疗或康复治疗的成功。患者和治疗师对脑损伤的认知常常不同。然而，对于帕金森病（PD）患者的WA及其与物理康复后临床结果的关系知之甚少。本研究旨在研究在物理康复计划的早期阶段患者和物理治疗师之间的WA差异，并探讨它们与步态相关评估改善的关系。方法选取21例PD患者参与Lee Silverman声音治疗BIG项目。与步态相关的评估，包括10米步行测试（10-MWT）的步态速度和计时；都是在项目前后进行的。在第五期结束后，使用工作联盟量表（WAI）对患者和治疗师进行WA评估。采用非配对t检验分析患者和治疗师评价的WAI之间的差异。还对患者和治疗师评定的WAI评分和步态相关评估的改善率进行了相关性分析。结果患者的WAI评分明显高于治疗师。只有患者评分的WAI与10-MWT的步态速度改善率相关，而治疗师评分的WAI没有显着相关性。结论PD患者在康复早期对WA的感知高于治疗师，患者的感知可能影响康复过程中功能的改善。

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引用次数: 0

Movement disorders accompanying lithium intoxication – An evolving clinical presentation and SILENT syndrome 伴随锂中毒的运动障碍-不断发展的临床表现和沉默综合征

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100347

Artur Bystrzyński , Magdalena Kwaśniak-Butowska , Jarosław Sławek

Lithium carbonate is a known medication for bipolar disorder and requires monitoring due to the central nervous system toxicity. Symptoms mainly include cerebellar dysfunction, although may fluctuate and change over time. We present an evolving clinical picture of a patient with a complex symptoms and prolonged effect of intoxication.

碳酸锂是一种已知的治疗双相情感障碍的药物，由于其对中枢神经系统的毒性，需要进行监测。症状主要包括小脑功能障碍，尽管可能随时间波动和改变。我们提出了一个不断发展的临床图片患者的复杂症状和中毒的长期影响。

引用次数: 0

GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region 来自托斯卡纳地区的252名意大利患者的GBA基因型与帕金森病表型的相关性

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100326

Rodolfo Tonin , Silvia Ramat , Marina Rinaldi , Silvia Falliano , Federica Feo , Francesca Cardona , Camilla Matassini , Guido Mannaioni , Giulia Grigioni , Luca Caremani , Alessandra Govoni , Maria Luisa Della Bona , Giancarlo la Marca , Renzo Guerrini , Amelia Morrone

Introduction

heterozygous mutations in the glucocerebrosidase gene (GBA1), encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD). To assess the frequency of GBA1 variants related to PD in a cohort of Tuscany patients and to determine the link between GBA1 variants and motor and non-motor clinical features in PD.

Methods

We screened GCase enzyme activity on Dried Blood Spot using tandem mass spectrometry (LC-MS/MS) and performed sequencing analysis on entire cohort of PD patients by Next Generation Sequencing (NGS) technology. Variants were confirmed with Sanger method.

Results

among the 252 PD patients, we detected reduced GCase activity (≤5 μmol/h/L) in 78 (31%). NGS analysis identified 22 carriers of GBA1 variants (8.7%) in whom 14 carried common GBA1 variants currently known to be related to PD (Leu444Pro, Asn370Ser, Glu326Lys, Thr369Met and Asp409His). PD patients who were heterozygous carriers of pathogenic GBA1 variants presented with earlier onset of PD, faster disease progression and a more frequent non-motor symptoms compared to the remaining PD patients without GBA1 mutations.

Conclusions

8.7% of the 252 PD patients carried GBA1 variants at a heterozygous level, and their clinical presentation and progression were more severe compared to other patients within our cohort.

编码溶酶体酶β-葡萄糖脑苷酶（GCase）的糖脑苷酶基因（GBA1）的杂合突变是帕金森病（PD）最常见的遗传危险因素。评估托斯卡纳患者队列中与PD相关的GBA1变异的频率，并确定GBA1变异与PD的运动和非运动临床特征之间的联系。方法采用串联质谱法（LC-MS/MS）筛选干血斑GCase酶活性，采用下一代测序技术（NGS）对PD患者全队列进行测序分析。变异用Sanger法确认。结果252例PD患者中，有78例（31%）检测到GCase活性降低（≤5 μmol/h/L）。NGS分析鉴定出22名GBA1变异携带者（8.7%），其中14名携带目前已知与PD相关的常见GBA1变异（Leu444Pro、Asn370Ser、Glu326Lys、Thr369Met和Asp409His）。与未发生GBA1突变的PD患者相比，GBA1致病性变异杂合携带者PD患者的PD发病更早，疾病进展更快，非运动症状更频繁。结论252例PD患者中有8.7%的患者携带GBA1杂合变异，其临床表现和进展比我们队列中的其他患者更严重。

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引用次数: 0

The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants GBA1位点最常见的结构变异可能通过一种简单的扩增方法检测到：筛查帕金森病变异的意义

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100338

Roberto Rozenberg , Fabiano Tofoli de Araujo , Hsin Fen Chien , Egberto Reis Barbosa , Lygia V. Pereira

Introduction

Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because GBA1, the gene involved in GD, has a 96 % homologous pseudogene, GBAP1, at a 1.6kb distance. GBA1 gene variants are also the most common molecular alteration among Parkinson’s Disease (PD) patients, even in heterozygosity. The most common GD causing recombinant allele is RecNciI (which comprises three single nucleotide variants: p.L483P, p.A495P and p.Val499=). Every time this GBA1 recombinant allele is formed by an unequal crossing over event, another allele is formed with a copy number gain, i.e., a triplicate copy where GBA1 and GBAP1 are preserved, and a third intermediate copy is formed with its sequence starting at GBAP1 and then reverting to GBA1 after the recombination point (called here TRIP-SV).

Methods

Two cohorts were screened for the mid part of the TRIP-SV in PD patients using a specific amplification method. One cohort was formed by 65 early onset PD patients and the other with 100 idiopathic PD patients.

Results

In each cohort one patient carrying the TRIP-SV was detected. Sanger sequencing confirmed the expected sequence of the TRIP-SV.

Conclusion

Our findings indicate that it is mandatory that groups analyzing the GBA1 gene searching for molecular causation of PD investigate the presence of this SV encompassing the GBA1/GBAP1 region, which pathogenicity deserves further studies.

重组等位基因是导致戈谢病（GD）改变的主要原因。这是因为与GD相关的基因GBA1在1.6kb的距离上有一个96%同源的假基因GBAP1。GBA1基因变异也是帕金森病（PD）患者中最常见的分子改变，即使在杂合性中也是如此。最常见的导致GD的重组等位基因是RecNciI（它包含三个单核苷酸变体：p.L483P, p.A495P和p.Val499=）。每次GBA1重组等位基因通过不相等交叉事件形成时，另一个等位基因的拷贝数增加，即GBA1和GBAP1被保留的三副本，形成第三个中间副本，其序列从GBAP1开始，然后在重组点后恢复到GBA1（这里称为TRIP-SV）。方法采用特异性扩增法筛选两组PD患者中TRIP-SV的中间部分。一组由65名早发性PD患者组成，另一组由100名特发性PD患者组成。结果每组均检出1例TRIP-SV携带者。Sanger测序证实了TRIP-SV的预期序列。结论通过分析GBA1基因寻找PD的分子原因，有必要研究GBA1/GBAP1区域是否存在这种SV，其致病性值得进一步研究。

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引用次数: 0

Effects of different side motor impairments at early onset on voice acoustic performance in patients with Parkinson’s disease 早期不同侧运动损伤对帕金森病患者声声学表现的影响

IF 1.8 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100398

Chi-Lin Chen , Ching-Huang Lin , Kai-Li Chen , Chen-San Su

Purpose

This study aimed to explore the effects of motor impairments on different sides of the body at early onset in relation to voice acoustic performance in patients with Parkinson’s disease.

Materials and methods

Participants were classified based on which side (left or right) experienced motor impairments first, as well as the stage (early or late) of the disease. Hoehn-Yahr stages one and two were categorized as early-stage, while stages three and four were categorized as late-stage. Participants were divided into four groups: Group A, left-side early-stage conditions; Group B, left-side late-stage conditions; Group C, right-side early-stage conditions; Group D, right-side late-stage conditions. Participants performed three recording tasks that involved sustained phonation of the vowels/a/,/i/, and/u/. The study analyzed four acoustic parameters: Maximum Phonation Time (MPT), jitter, shimmer, and vF0.

Results

An Analysis of Variance revealed that for the acoustic parameters of /a/vF0 and /a/jitter, Group B performed significantly worse than Group A (p < 0.05). No significant differences were found in the other acoustic parameters or in MPT voice performance across the four groups.

Conclusions

The side of motor impairments at early onset is correlated with the severity of voice disorders. Notably, when impairments occur on the left side, the resulting voice disorders become more pronounced as the disease progresses.

目的本研究旨在探讨帕金森病患者早期身体不同部位运动障碍对声音声学表现的影响。材料和方法根据首先经历运动损伤的一侧（左或右）以及疾病的阶段（早期或晚期）对参与者进行分类。Hoehn-Yahr阶段1和2被归类为早期阶段，而3和4被归类为晚期阶段。参与者被分为四组：A组，左侧早期状态；B组为左侧晚期患者；C组，右侧早期情况；D组，右侧晚期病例。参与者完成了三个录音任务，包括持续发元音/a/、/i/和/u/。该研究分析了四个声学参数：最大发声时间（MPT）、抖动、闪烁和vF0。结果方差分析显示，对于/a/vF0和/a/jitter的声学参数，B组的表现显著低于a组（p < 0.05）。四组在其他声学参数或MPT语音表现方面没有发现显著差异。结论早发性运动障碍的侧边与发声障碍的严重程度相关。值得注意的是，当左侧受损时，随着疾病的进展，由此产生的声音障碍会变得更加明显。

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引用次数: 0

Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions 新的NOTCH3突变c.1564t>a （p.Cys522Ser）表现为早发性帕金森病和白质病变。

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100297

Nicola Rifino , Silvia Baratta , Esteban Zacarias , Isabella Canavero , Benedetta Storti , Mario Stanziano , Emanuela Maderna , Gianluca Marucci , Franco Taroni , Anna Bersano

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.Cys522Ser) mutation associated with early-onset parkinsonism and significant white matter lesions. We describe a patient who presented with early-onset parkinsonism, characterized by bradykinesia and rigidity, alongside extensive white matter lesions observed through neuroimaging. Genetic testing revealed a novel c.1564 T > A (p.Cys522Ser) mutation in the NOTCH3 gene, contributing to the clinical diagnosis of CADASIL. This case underscores the phenotypic variability of CADASIL and the potential for atypical presentations, including parkinsonism. Early identification of genetic mutations can facilitate appropriate management and counseling for affected individuals and their families. Further research is warranted to explore the mechanisms underlying the association between NOTCH3 mutations and parkinsonism. Our findings contribute to the understanding of CADASIL, suggesting that clinicians should consider CADASIL in differential diagnoses of early-onset parkinsonism, especially in patients with concurrent white matter lesions.

CADASIL（大脑常染色体显性动脉病变伴皮质下梗死和脑白质病）是一种由NOTCH3基因突变引起的遗传性小血管疾病，以复发性中风、认知能力下降和精神症状为特征。本报告提出了一种新颖的NOTCH3 c.1564t>a （p.Cys522Ser）突变与早发性帕金森病和显著白质病变相关。我们描述了一位表现为早发性帕金森病的患者，其特征是运动迟缓和僵硬，同时通过神经影像学观察到广泛的白质病变。基因检测发现了一种新的c.1564NOTCH3基因中的T > A （p.Cys522Ser）突变，有助于CADASIL的临床诊断。该病例强调了CADASIL的表型变异性和非典型表现的可能性，包括帕金森病。基因突变的早期识别有助于对受影响的个人及其家庭进行适当的管理和咨询。NOTCH3突变与帕金森病之间的关联机制有待进一步研究。我们的研究结果有助于理解CADASIL，建议临床医生在早发性帕金森病的鉴别诊断中考虑CADASIL，特别是在并发白质病变的患者中。

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引用次数: 0

Efficacy of virtual reality-based cognitive behavioral group therapy in enhancing emotional well-being and quality of life in Parkinson’s disease: A randomized controlled trial 基于虚拟现实的认知行为团体治疗在增强帕金森病患者情绪健康和生活质量方面的疗效：一项随机对照试验

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100316

Gooya Tayyebi , Farnaz Asadiof , Bahar Hashempour , Mohsen Lotfi , Mostafa Taheri , Mahdi Naeim

Objective

This study evaluates the effectiveness of virtual reality-based cognitive behavioral group therapy (VR-CBGT) in improving emotional well-being and quality of life in individuals with Parkinson’s disease.

Methods

A randomized controlled trial was conducted in 2023 at Roozbeh Hospital, Tehran, with 90 Parkinson’s patients. Participants were randomly assigned to an intervention group receiving 12 VR-CBGT sessions over three months with a control group receiving standard medical care without psychological intervention. Emotional well-being was assessed using the Hospital Anxiety and Depression Scale (HADS), and quality of life was measured with the Parkinson’s Disease Questionnaire-39 (PDQ-39) before and after the intervention. Data were analyzed using Multivariate Analysis of Covariance (MANCOVA) in SPSS-25.

Results

The intervention group demonstrated a significant improvement in emotional well-being (HADS-total score reduction of 7.2 points, P < 0.001) and quality of life (PDQ-39 total score improvement of 12.5 %, P = 0.002) compared to the control group. VR-CBGT explained 18 % of the variance in emotional well-being and 26 % in quality of life.

Conclusion

These findings highlight VR-CBGT as an effective complementary intervention for enhancing psychological health and overall quality of life in Parkinson’s patients. The immersive nature of VR fosters engagement and facilitates cognitive and emotional processing, supporting its integration into multidisciplinary treatment approaches.

目的评估基于虚拟现实的认知行为团体治疗（VR-CBGT）在改善帕金森病患者情绪健康和生活质量方面的有效性。方法于2023年在德黑兰Roozbeh医院对90例帕金森病患者进行随机对照试验。参与者被随机分配到干预组，在三个月内接受12次VR-CBGT治疗，对照组接受标准医疗护理，不进行心理干预。采用医院焦虑和抑郁量表（HADS）评估情绪幸福感，并在干预前后用帕金森病问卷-39 （PDQ-39）测量生活质量。数据采用SPSS-25多变量协方差分析（MANCOVA）进行分析。结果干预组患者情绪幸福感显著改善(hads总分降低7.2分，P <；0.001)和生活质量（PDQ-39总分比对照组提高12.5%,P = 0.002）。VR-CBGT解释了18%的情绪健康差异和26%的生活质量差异。结论VR-CBGT是一种有效的辅助干预，可改善帕金森病患者的心理健康和整体生活质量。虚拟现实的沉浸性促进了参与，促进了认知和情感处理，支持其融入多学科治疗方法。

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引用次数: 0

Associations among blood biomarkers, clinical subtypes, and prognosis in Parkinson’s disease 帕金森病血液生物标志物、临床亚型和预后之间的关系

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100313

Hideki Oizumi , Takafumi Hasegawa , Ichiro Kawahata , Tomoki Sekimori , Tomoko Totsune , Yoko Sugimura , Toru Baba , Kohji Fukunaga , Atsushi Takeda

Background

Early identification of the poor prognosis subtype by surrogate markers would be advantageous for selecting treatments for Parkinson’s disease (PD). The aim of the present study was to test whether plasma neurofilament light chain (NF-L), total tau (t-tau), ubiquitin carboxyl-terminal hydrolase L1 (UCH-L1), fatty acid-binding protein 3 (FABP3), and phosphorylated tau (p-tau) can be used as prognostic biomarkers in PD.

Methods

In the present study, both retrospective and prospective studies were performed. Plasma samples at baseline from 81 PD patients were included in the prospective study. Plasma samples at baseline from 60 patients who underwent cognitive assessment were subjected to the hierarchical cluster analysis for a retrospective study.

Results

On the basis of the results of the cluster analysis, patients were classified into three groups: groups (G)1, G2 and G3. Individuals in the G1 cluster, who had an older age at onset and were prone to early progression with dementia, had significantly greater plasma NF-L levels than those in the G3 cluster, who did not present with dementia at an early stage. A Cox proportional hazards regression model adjusted for age and sex revealed that high NF-L and UCH-L1 levels at baseline predicted the four future milestones (i.e., nursing care, dysphagia, wheelchair use, and repeated falls), and high plasma t-tau at baseline predicted future dysphagia.

Conclusions

Although further studies with a larger number of patients will be required, plasma NF-L may be a useful biomarker for identifying the rapidly progressive subtype of PD, and plasma NF-L and UCH-L1 may serve as biomarkers of overall PD prognosis, whereas plasma t-tau could be a biomarker for future dysphagia in PD.

背景：通过替代标记物准确识别预后不良亚型有助于帕金森病（PD）的治疗选择。本研究的目的是检测血浆神经丝轻链（NF-L）、总tau蛋白（t-tau）、泛素羧基末端水解酶L1 （UCH-L1）、脂肪酸结合蛋白3 （FABP3）和磷酸化tau蛋白（p-tau）是否可以作为帕金森病的预后生物标志物。方法本研究采用回顾性和前瞻性研究。81例帕金森病患者的基线血浆样本被纳入前瞻性研究。60例接受认知评估的患者的基线血浆样本进行了回顾性的分层聚类分析。结果根据聚类分析结果将患者分为3组（G组）：1、G2、G3组。G1组患者发病年龄较大，易早期发展为痴呆，其血浆NF-L水平明显高于G3组患者，而G3组患者在早期未出现痴呆。经年龄和性别调整的Cox比例风险回归模型显示，基线时高NF-L和UCH-L1水平可预测未来的四个里程碑（即护理、吞咽困难、轮椅使用和重复跌倒），基线时高血浆t-tau可预测未来的吞咽困难。结论血浆NF-L可能是识别PD快速进展亚型的有用生物标志物，血浆NF-L和UCH-L1可能作为PD整体预后的生物标志物，而血浆t-tau可能是PD未来吞咽困难的生物标志物。

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引用次数: 0

The comparison of gait disorders among different motor subtypes in Parkinson’s disease patients during the early and middle stages 帕金森病患者不同运动亚型早中期步态障碍的比较

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100309

Jianing Mei , Yu Wang , Dongyu Zhu , Yang Li , Kan Gu , Zijun Wei , Xueyi Han , Qianqian Li , Shuyun Jiang , Yunyun Zhang

Background and Purpose

There is a scarcity of quantitative research on gait differences among patients with different motor subtypes of Parkinson’s disease (PD), especially during the early and middle stages of the condition. The purpose of this study is to describe the gait characteristics of PD with different motor subtypes in the early and middle stages and to identify the most sensitive indicators of gait impairment.

Methods

General information, including age, gender, disease duration, levodopa equivalent daily dose (LEDD), and falls, was collected. Motor and non-motor symptoms of PD were assessed using multiple scales. Patients’ walking function and lower limb joint movement ability were analyzed using a 3D gait analysis system.

Results

The study included 64 patients with early and middle-stage PD, of whom 33 were classified as the TD subtype, 24 were classified as the PIGD subtype, and 7 were classified as the Mixed subtype. In addition, 5 healthy subjects were included in the evaluation as healthy controls. The PIGD patients have significantly higher LEDD (431.08 ± 250.90 mg vs. 302.08 ± 164.64 mg, p = 0.034) and a higher number of falls (0.29 vs. 0.00, p = 0.018) than the TD patients. The overall gait disturbances and motor and non-motor symptoms did not exhibit significant differences between TD and PIGD patients. However, the decrease in GDI (β = −0.730 vs. β = −0.235, p = 0.043) and hip flexion and extension range (β = −0.533 vs. β = −0.470, p < 0.001) was more pronounced in PIGD patients compared to TD patients as the MDS-UPDRS Ⅲ score increased.

Conclusion

There is no significant difference in gait severity between patients with TD and PIGD subtypes during the early and middle stages of PD. However, PIGD patients exhibit a more rapid progression of gait impairment than TD, particularly affecting hip mobility.

背景与目的目前对帕金森病（PD）不同运动亚型患者步态差异的定量研究还很缺乏，特别是在帕金森病的早期和中期。本研究的目的是描述不同运动亚型PD在早期和中期的步态特征，并确定步态障碍最敏感的指标。方法收集患者的一般信息，包括年龄、性别、病程、左旋多巴当量日剂量（LEDD）和跌倒情况。PD的运动和非运动症状采用多种量表进行评估。采用三维步态分析系统分析患者的行走功能和下肢关节运动能力。结果本研究纳入64例早中期PD患者，其中TD亚型33例，PIGD亚型24例，混合型7例。另外，选取5名健康受试者作为健康对照。PIGD患者的LEDD（431.08±250.90 mg vs. 302.08±164.64 mg, p = 0.034）和跌倒次数（0.29 vs. 0.00, p = 0.018）明显高于TD患者。总体步态障碍、运动和非运动症状在TD和PIGD患者之间没有显着差异。然而，GDI （β = - 0.730 vs. β = - 0.235, p = 0.043）和髋屈伸范围(β = - 0.533 vs. β = - 0.470, p <；0.001)，随着MDS-UPDRSⅢ评分的增加，PIGD患者比TD患者更明显。结论PD早中期，TD和PIGD亚型患者的步态严重程度无显著差异。然而，PIGD患者表现出比TD更快的步态障碍进展，特别是影响髋关节活动。

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