Clinical Parkinsonism Related Disorders最新文献_第10页

Functional outcomes in older patients after Parkinson’s disease diagnosis in Japan: The LIFE study 日本老年帕金森病患者诊断后的功能结局：LIFE研究

IF 1.8 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100375

Masayo Komatsu , Sanyu Ge , Yasuyoshi Kimura , Ling Zha , Nobuhiro Narii , Yuki Okita , Yoshimitsu Shimomura , Yasufumi Gon , Fumiko Murata , Megumi Maeda , Sho Komukai , Kosuke Kiyohara , Tetsuhisa Kitamura , Hideki Mochizuki , Haruhisa Fukuda

Background

The association between care needs level (CNL) and functional outcomes after diagnosis in older patients with Parkinson’s disease (PD) is unclear.

Methods

Using health insurance claims and the Japanese Long-Term Care (LTC) data from 12 municipalities in Japan, PD patients aged ≥ 65 years old were identified between April 2014 and March 2022. CNL was classified as no care needed (NCN), support level (SL), CNL1 (low level), CNL2-3, and CNL4-5 (fully dependent) based on the total estimated daily care hours as defined by the national standard criteria. The primary outcomes were changes in CNL and all-cause death one year after PD diagnosis by baseline CNL at diagnosis.

Results

Of the 11,270 PD patients, 39.8% had NCN, 27.6% SL&CNL1, 18.8% CNL2-3, and13.9% CNL4-5 at PD diagnosis. One-year after diagnosis, there were NCN 28.2%, SL&CNL1 24.9%, CNL2-3 19.2%, CNL4-5 17.6% (i.e., 61.7% required care need), and all-cause death 10.1%. Compared with NCN patients at diagnosis, patients with SL&CNL1, CNL2-3, and CNL4-5 had an increased risk of all-cause death one-year after diagnosis (adjusted hazard ratio [95% confidence interval]: 1.58 [1.29–1.93], 2.83 [2.32–3.46], and 5.80 [4.76–7.06]), assessed by using Cox proportional hazard models.

Conclusions

Baseline CNL in older Japanese patients was associated with all-cause death even one-year after PD diagnosis, and high CNL was associated with a high risk of all-cause death.

背景：老年帕金森病（PD）患者诊断后的护理需求水平（CNL）与功能结局之间的关系尚不清楚。方法使用来自日本12个直辖市的健康保险索赔和日本长期护理（LTC）数据，在2014年4月至2022年3月期间确定年龄≥65岁的PD患者。根据国家标准定义的每日估计护理总时间，将CNL分为无需护理（NCN）、支持水平（SL）、CNL1（低水平）、CNL2-3和CNL4-5（完全依赖）。主要结局是PD诊断后一年CNL和全因死亡的变化，以诊断时的基线CNL为标准。结果在11,270例PD患者中，39.8%的PD诊断为NCN， 27.6%为sl&cnl1, 18.8%为CNL2-3, 13.9%为CNL4-5。诊断一年后，NCN 28.2%, SL&CNL1 24.9%, CNL2-3 19.2%, CNL4-5 17.6%（即需要护理的61.7%），全因死亡10.1%。与诊断时的NCN患者相比，SL&；CNL1、CNL2-3和CNL4-5患者在诊断后一年的全因死亡风险增加（校正风险比[95%置信区间]:1.58[1.29-1.93]、2.83[2.32-3.46]和5.80[4.76-7.06]）。结论日本老年患者的基线CNL与PD诊断后一年的全因死亡相关，且高CNL与全因死亡的高风险相关。

{"title":"Functional outcomes in older patients after Parkinson’s disease diagnosis in Japan: The LIFE study","authors":"Masayo Komatsu , Sanyu Ge , Yasuyoshi Kimura , Ling Zha , Nobuhiro Narii , Yuki Okita , Yoshimitsu Shimomura , Yasufumi Gon , Fumiko Murata , Megumi Maeda , Sho Komukai , Kosuke Kiyohara , Tetsuhisa Kitamura , Hideki Mochizuki , Haruhisa Fukuda","doi":"10.1016/j.prdoa.2025.100375","DOIUrl":"10.1016/j.prdoa.2025.100375","url":null,"abstract":"<div><h3>Background</h3><div>The association between care needs level (CNL) and functional outcomes after diagnosis in older patients with Parkinson’s disease (PD) is unclear.</div></div><div><h3>Methods</h3><div>Using health insurance claims and the Japanese Long-Term Care (LTC) data from 12 municipalities in Japan, PD patients aged ≥ 65 years old were identified between April 2014 and March 2022. CNL was classified as no care needed (NCN), support level (SL), CNL1 (low level), CNL2-3, and CNL4-5 (fully dependent) based on the total estimated daily care hours as defined by the national standard criteria. The primary outcomes were changes in CNL and all-cause death one year after PD diagnosis by baseline CNL at diagnosis.</div></div><div><h3>Results</h3><div>Of the 11,270 PD patients, 39.8% had NCN, 27.6% SL&CNL1, 18.8% CNL2-3, and13.9% CNL4-5 at PD diagnosis. One-year after diagnosis, there were NCN 28.2%, SL&CNL1 24.9%, CNL2-3 19.2%, CNL4-5 17.6% (i.e., 61.7% required care need), and all-cause death 10.1%. Compared with NCN patients at diagnosis, patients with SL&CNL1, CNL2-3, and CNL4-5 had an increased risk of all-cause death one-year after diagnosis (adjusted hazard ratio [95% confidence interval]: 1.58 [1.29–1.93], 2.83 [2.32–3.46], and 5.80 [4.76–7.06]), assessed by using Cox proportional hazard models.</div></div><div><h3>Conclusions</h3><div>Baseline CNL in older Japanese patients was associated with all-cause death even one-year after PD diagnosis, and high CNL was associated with a high risk of all-cause death.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100375"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144738668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nonmotor symptoms in Parkinson’s disease patients in South Asia: A systematic review and meta-analysis 南亚帕金森病患者的非运动症状：系统回顾和荟萃分析

IF 1.8 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100374

Prayash Paudel, Asutosh Sah

Background

The most common movement disorder and neurodegenerative disorder that progresses over time, Parkinson’s disease, has both motor and nonmotor symptoms. Asia is home to half of the world’s elderly population, and Parkinson’s disease is a common condition in this demographic.

Objectives

We aimed to estimate the pooled prevalence of nonmotor symptoms among Parkinson’s disease patients in South Asia based on the available literature.

Methods

The study protocol was registered on PROSPERO with reference number CRD42024579956. Databases were searched for observational studies from 2000 to 2024 in English that have assessed the prevalence of nonmotor symptoms among Parkinson’s disease patients in South Asia via validated tools. High-quality studies were included after quality assessment. A random-effects model was used to calculate the pooled prevalence with a 95 % confidence interval.

Results

Among the 50 articles (4931 participants) included in the review, 9 (862 participants) used the Nonmotor Symptoms Questionnaire, 9 (803 participants) used the Nonmotor Symptoms Scale, 2 (171 participants) used both, and the remaining 30 (3095 participants) used other validated tools to assess nonmotor symptoms in South Asian patients with Parkinson’s disease. The prevalence of nonmotor symptoms was high, with nocturia being the most prevalent. Psychological symptoms were frequently explained via other tools.

Conclusions

Our research is among the few clinical accounts in the literature of the prevalence of nonmotor stmptoms in South Asian Parkinson’s disease patients. Although the heterogeneity of the results could not be fully explained, our study could significantly enhance the understanding of symptoms, leading to more tailored therapeutic and diagnostic strategies.

帕金森氏病是最常见的运动障碍和神经退行性疾病，随着时间的推移而发展，同时具有运动和非运动症状。亚洲拥有世界上一半的老年人口，帕金森病是这一人群的常见病。目的基于现有文献，估计南亚帕金森病患者非运动症状的总患病率。方法研究方案在PROSPERO上注册，参考号为CRD42024579956。数据库检索了2000年至2024年的英语观察性研究，这些研究通过经过验证的工具评估了南亚帕金森病患者非运动症状的患病率。质量评估后纳入高质量研究。采用随机效应模型计算合并患病率，置信区间为95%。在纳入本综述的50篇文章（4931名受试者）中，9篇（862名受试者）使用非运动症状问卷，9篇（803名受试者）使用非运动症状量表，2篇（171名受试者）两者都使用，其余30篇（3095名受试者）使用其他有效工具来评估南亚帕金森病患者的非运动症状。非运动症状的发生率较高，夜尿最为常见。心理症状经常通过其他工具来解释。结论sour研究是文献中少数关于南亚帕金森病患者非运动症状患病率的临床研究之一。虽然结果的异质性不能完全解释，但我们的研究可以显著提高对症状的理解，从而导致更有针对性的治疗和诊断策略。

{"title":"Nonmotor symptoms in Parkinson’s disease patients in South Asia: A systematic review and meta-analysis","authors":"Prayash Paudel, Asutosh Sah","doi":"10.1016/j.prdoa.2025.100374","DOIUrl":"10.1016/j.prdoa.2025.100374","url":null,"abstract":"<div><h3>Background</h3><div>The most common movement disorder and neurodegenerative disorder that progresses over time, Parkinson’s disease, has both motor and nonmotor symptoms. Asia is home to half of the world’s elderly population, and Parkinson’s disease is a common condition in this demographic.</div></div><div><h3>Objectives</h3><div>We aimed to estimate the pooled prevalence of nonmotor symptoms among Parkinson’s disease patients in South Asia based on the available literature.</div></div><div><h3>Methods</h3><div>The study protocol was registered on PROSPERO with reference number CRD42024579956. Databases were searched for observational studies from 2000 to 2024 in English that have assessed the prevalence of nonmotor symptoms among Parkinson’s disease patients in South Asia via validated tools. High-quality studies were included after quality assessment. A random-effects model was used to calculate the pooled prevalence with a 95 % confidence interval.</div></div><div><h3>Results</h3><div>Among the 50 articles (4931 participants) included in the review, 9 (862 participants) used the Nonmotor Symptoms Questionnaire, 9 (803 participants) used the Nonmotor Symptoms Scale, 2 (171 participants) used both, and the remaining 30 (3095 participants) used other validated tools to assess nonmotor symptoms in South Asian patients with Parkinson’s disease. The prevalence of nonmotor symptoms was high, with nocturia being the most prevalent. Psychological symptoms were frequently explained via other tools.</div></div><div><h3>Conclusions</h3><div>Our research is among the few clinical accounts in the literature of the prevalence of nonmotor stmptoms in South Asian Parkinson’s disease patients. Although the heterogeneity of the results could not be fully explained, our study could significantly enhance the understanding of symptoms, leading to more tailored therapeutic and diagnostic strategies.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100374"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144748595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Corrigendum to “Spatial variability and directional shifts in postural control in Parkinson’s disease” [Clin. Parkinsonism Relat. Disord. (2024) 10, 100249] “帕金森病中姿势控制的空间变异性和方向变化”的更正[临床]。帕金森症遗传代数。Disord。（2024） 10, 100249]

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100308

Damian G. Kelty Stephen , Ken Kiyono , Nick Stergiou , Madhur Mangalam

引用次数: 0

Distinctive cognitive phenotypes in Parkinson’s disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study 具有GBA突变且无痴呆的帕金森病患者的独特认知表型：一项多中心横断面回顾性研究

IF 1.9 Q3 CLINICAL NEUROLOGY

Clinical Parkinsonism Related Disorders

Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100365

Chiara Longo , Marco Liccari , Ruggero Bacchin , Costanza Papagno , Donatella Ottaviani , Raffaella Di Giacopo , Mauro Catalan , Alina Menichelli , Massimo Marano , Alessio Di Fonzo , Giovanni Duro , Carmela Zizzo , Paolo Manganotti , Bruno Giometto , Maria Chiara Malaguti

Background

Cognitive impairment is a major non-motor complication of Parkinson’s disease (PD). GBA mutations are associated with an increased risk, with PD-GBA+ patients typically showing earlier disease onset and faster cognitive decline. However, the specific cognitive phenotype of these patients remains unclear.

Aim

To provide a detailed neuropsychological profile of PD-GBA+ patients compared to PD-GBA− patients.

Methods

Data from 18 PD-GBA+ and 68 PD-GBA− patients were retrospectively analyzed. All participants underwent comprehensive neurological evaluations of motor and non-motor symptoms, along with a Level II neuropsychological assessment based on the MDS criteria for mild cognitive impairment (MCI). Patients with dementia were excluded.

Results

PD-GBA+ patients showed significantly lower cognitive performance, particularly on the RAVLT immediate recall (RAVLT-IR, p < 0.001) and delayed recall (RAVLT-DR, p = 0.002). All PD-GBA+ patients exhibited an amnestic multi-domain MCI phenotype. In contrast, the PD-GBA− group predominantly showed a non-amnestic single-domain MCI, characterized by a dysexecutive profile. Additionally, PD-GBA+ patients had a higher prevalence of freezing of gait (p < 0.001), right-sided motor symptom lateralization (p = 0.011), and REM sleep behavior disorder (p = 0.006).

Conclusions

PD-GBA+ patients exhibit a distinctive cognitive phenotype, already evident in the early stages of the disease. These results highlight the added value of Level II neuropsychological assessment in accurately characterizing the clinical phenotype and identifying patients at higher risk of developing dementia. Early cognitive profiling may thus contribute to more targeted monitoring and personalized therapeutic strategies.

认知障碍是帕金森病（PD）的主要非运动并发症。GBA突变与风险增加有关，PD-GBA+患者通常表现出更早的疾病发作和更快的认知能力下降。然而，这些患者的具体认知表型尚不清楚。目的提供PD-GBA+患者与PD-GBA -患者的详细神经心理学资料。方法回顾性分析18例PD-GBA+和68例PD-GBA -患者的资料。所有参与者都接受了运动和非运动症状的综合神经学评估，以及基于MDS轻度认知障碍（MCI）标准的II级神经心理学评估。痴呆患者排除在外。结果spd - gba +患者的认知表现明显下降，尤其是在RAVLT即时回忆(RAVLT- ir, p <；延迟回忆（RAVLT-DR, p = 0.002）。所有PD-GBA+患者均表现为遗忘型多域MCI表型。相比之下，PD-GBA组主要表现为非遗忘的单域MCI，其特征是执行障碍。此外，PD-GBA+患者步态冻结的发生率更高(p <；0.001)、右侧运动症状偏侧化（p = 0.011）和REM睡眠行为障碍（p = 0.006）。结论spd - gba +患者表现出独特的认知表型，在疾病的早期阶段已经很明显。这些结果突出了二级神经心理学评估在准确表征临床表型和识别痴呆高风险患者方面的附加价值。因此，早期认知分析可能有助于更有针对性的监测和个性化的治疗策略。

{"title":"Distinctive cognitive phenotypes in Parkinson’s disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study","authors":"Chiara Longo , Marco Liccari , Ruggero Bacchin , Costanza Papagno , Donatella Ottaviani , Raffaella Di Giacopo , Mauro Catalan , Alina Menichelli , Massimo Marano , Alessio Di Fonzo , Giovanni Duro , Carmela Zizzo , Paolo Manganotti , Bruno Giometto , Maria Chiara Malaguti","doi":"10.1016/j.prdoa.2025.100365","DOIUrl":"10.1016/j.prdoa.2025.100365","url":null,"abstract":"<div><h3>Background</h3><div>Cognitive impairment is a major non-motor complication of Parkinson’s disease (PD). GBA mutations are associated with an increased risk, with PD-GBA+ patients typically showing earlier disease onset and faster cognitive decline. However, the specific cognitive phenotype of these patients remains unclear.</div></div><div><h3>Aim</h3><div>To provide a detailed neuropsychological profile of PD-GBA+ patients compared to PD-GBA− patients.</div></div><div><h3>Methods</h3><div>Data from 18 PD-GBA+ and 68 PD-GBA− patients were retrospectively analyzed. All participants underwent comprehensive neurological evaluations of motor and non-motor symptoms, along with a Level II neuropsychological assessment based on the MDS criteria for mild cognitive impairment (MCI). Patients with dementia were excluded.</div></div><div><h3>Results</h3><div>PD-GBA+ patients showed significantly lower cognitive performance, particularly on the RAVLT immediate recall (RAVLT-IR, p < 0.001) and delayed recall (RAVLT-DR, p = 0.002). All PD-GBA+ patients exhibited an amnestic multi-domain MCI phenotype. In contrast, the PD-GBA− group predominantly showed a non-amnestic single-domain MCI, characterized by a dysexecutive profile. Additionally, PD-GBA+ patients had a higher prevalence of freezing of gait (p < 0.001), right-sided motor symptom lateralization (p = 0.011), and REM sleep behavior disorder (p = 0.006).</div></div><div><h3>Conclusions</h3><div>PD-GBA+ patients exhibit a distinctive cognitive phenotype, already evident in the early stages of the disease. These results highlight the added value of Level II neuropsychological assessment in accurately characterizing the clinical phenotype and identifying patients at higher risk of developing dementia. Early cognitive profiling may thus contribute to more targeted monitoring and personalized therapeutic strategies.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100365"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144571378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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。

{"title":"Long term (TEN YEARS) follow-up in a trembling patient with parkinsonian signs without dopaminergic denervation","authors":"Luca Angelini , Giulia Paparella , Petra Schwingenschuh , Rick C.G. Helmich , Matteo Bologna","doi":"10.1016/j.prdoa.2025.100371","DOIUrl":"10.1016/j.prdoa.2025.100371","url":null,"abstract":"<div><div>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.</div><div>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.</div><div>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.</div><div>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.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100371"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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。

{"title":"Differences between patient- and therapist-rated working alliance and their relationships with physical rehabilitation outcomes in individuals with Parkinson’s disease","authors":"Keita Sue , Kazumi Sakurai , Daiki Usuda , Katsuyuki Kobayashi , Keiko Nakamura , Tomomi Kinoshita , Kimito Momose","doi":"10.1016/j.prdoa.2025.100349","DOIUrl":"10.1016/j.prdoa.2025.100349","url":null,"abstract":"<div><h3>Introduction</h3><div>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 aphysical rehabilitation program and explore their relationships with improvements in gait-related assessments.</div></div><div><h3>Methods</h3><div>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 <em>t</em>-test. Correlational analyses between both patient- and therapist-rated WAI scores and improvement rates in gait-related assessments were also performed.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100349"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144069858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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。

{"title":"GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region","authors":"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","doi":"10.1016/j.prdoa.2025.100326","DOIUrl":"10.1016/j.prdoa.2025.100326","url":null,"abstract":"<div><h3>Introduction</h3><div>heterozygous mutations in the glucocerebrosidase gene (<em>GBA1</em>), encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD). To assess the frequency of <em>GBA1</em> variants related to PD in a cohort of Tuscany patients and to determine the link between <em>GBA1</em> variants and motor and non-motor clinical features in PD.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>among the 252 PD patients, we detected reduced GCase activity (≤5 μmol/h/L) in 78 (31%). NGS analysis identified 22 carriers of <em>GBA1</em> variants (8.7%) in whom 14 carried common <em>GBA1</em> variants currently known to be related to PD (Leu444Pro, Asn370Ser, Glu326Lys, Thr369Met and Asp409His). PD patients who were heterozygouscarriersof pathogenicvariants presented with earlier onset of PD, faster disease progression and a more frequent non-motor symptoms compared to the remaining PD patients without <em>GBA1</em> mutations.</div></div><div><h3>Conclusions</h3><div>8.7% of the 252 PD patients carried <em>GBA1</em> variants at a heterozygous level, and their clinical presentation and progression were more severe compared to other patients within our cohort.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100326"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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。

{"title":"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","authors":"Roberto Rozenberg , Fabiano Tofoli de Araujo , Hsin Fen Chien , Egberto Reis Barbosa , Lygia V. Pereira","doi":"10.1016/j.prdoa.2025.100338","DOIUrl":"10.1016/j.prdoa.2025.100338","url":null,"abstract":"<div><h3>Introduction</h3><div>Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because <em>GBA1</em>, the gene involved in GD, has a 96 % homologous pseudogene, <em>GBAP1</em>, at a 1.6kb distance. <em>GBA1</em> 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 Rec<em>Nci</em>I (which comprises three single nucleotide variants: p.L483P, p.A495P and p.Val499=). Every time this <em>GBA1</em> 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 <em>GBA1</em> and <em>GBAP1</em> are preserved, and a third intermediate copy is formed with its sequence starting at <em>GBAP1</em> and then reverting to <em>GBA1</em> after the recombination point (called here TRIP-SV).</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>In each cohort one patient carrying the TRIP-SV was detected. Sanger sequencing confirmed the expected sequence of the TRIP-SV.</div></div><div><h3>Conclusion</h3><div>Our findings indicate that it is mandatory that groups analyzing the <em>GBA1</em> gene searching for molecular causation of PD investigate the presence of this SV encompassing the <em>GBA1</em>/<em>GBAP1</em> region, which pathogenicity deserves further studies.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100338"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143918423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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。

{"title":"Effects of different side motor impairments at early onset on voice acoustic performance in patients with Parkinson’s disease","authors":"Chi-Lin Chen , Ching-Huang Lin , Kai-Li Chen , Chen-San Su","doi":"10.1016/j.prdoa.2025.100398","DOIUrl":"10.1016/j.prdoa.2025.100398","url":null,"abstract":"<div><h3>Purpose</h3><div>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.</div></div><div><h3>Materials and methods</h3><div>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.</div></div><div><h3>Results</h3><div>An Analysis of Variance revealed that for the acoustic parameters of /a/vF0 and /a/jitter, Group B performed significantly worse than Group A (<em>p</em> < 0.05). No significant differences were found in the other acoustic parameters or in MPT voice performance across the four groups.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100398"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145362019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0