Parkinsonism & related disorders最新文献

英文中文

Association between functional alterations and specific transcriptional expression patterns in craniocervical dystonia

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-31 DOI: 10.1016/j.parkreldis.2025.107315

Gang Liu , Jiana Zhang , Haoran Zhang , Qinxiu Cheng , Xiaodong Zhang , Jun Liu , Yuhan Luo , Linchang Zhong , Zhengkun Yang , Yue Zhang , Zilin Ou , Zhicong Yan , Weixi Zhang , Kangqiang Peng , Huiming Liu , Jinping Xu

Purpose

Craniocervical dystonia (CCD) is a large-scale network disorder that involves functional changes in multiple brain regions. However, the association between these functional changes and the underlying molecular mechanisms has not been explored.

Objective

We aimed to characterize the molecular changes associated with the imaging-defined functional architecture of the brain in CCD.

Methods

Resting-state functional magnetic resonance imaging (rs-fMRI) data were obtained from 146 patients with CCD and 137 healthy controls (HCs). Differences in the amplitude of low-frequency fluctuations (ALFF), fractional ALFF (fALFF), and regional homogeneity (ReHo) were compared between groups. Transcriptomic data were obtained from the Allen Human Brain Atlas to identify the gene expression patterns underlying the affected functional architecture in CCD using partial least squares regression.

Results

Compared to HCs, patients with CCD showed common functional alterations, mainly in the left middle occipital gyrus, right middle occipital gyrus, right calcarine, right precentral gyrus, and left postcentral gyrus. These functional alteration patterns were positively associated with 1763 genes (including five risk genes for dystonia) enriched for synaptic signaling, regulation of trans-synaptic signaling, and neuronal systems, while they were negatively associated with 2318 genes (including eight risk genes for dystonia), which were enriched for monoatomic cation transport, DNA damage response and neurodevelopment.

Conclusions

Our study reveals a genetic pathological mechanism explaining CCD-related brain functional changes.

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引用次数: 0

Balance exercise interventions in Parkinson's disease: A systematic mapping review of components, progression, and intensity.

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-31 DOI: 10.1016/j.parkreldis.2025.107310

Andreas Wallin, Erika Franzén, Jakob Studsgaard, Mikkel Baltzer Hansen, Sverker Johansson, John Kodal Brincks

Background: Rehabilitation in individuals with Parkinson's disease (PD) often includes balance training, but knowledge about optimal training content remains limited.

Objectives: To describe the design, content, delivery, and reporting of balance training for individuals with PD, and furthermore, to map the systematic use and reporting of methods monitoring intensity in balance training interventions for individuals with PD.

Methods: Six databases were searched. Interventions with at least 50 % of exercises challenging balance control were included. Balance training types (exergaming, multi-modal, sensory-motor integrated, and task-oriented) were categorized based on specific balance exercise components: motor (limits of stability, anticipatory motor strategies, reactive motor strategies, and control of dynamics), sensory (vestibular, visual, and somatosensory systems), and cognitive (dual-tasking in motor or cognitive activities). Training Frequency, Intensity, Time, Type, Volume, and Progression (FITT-VP principles) were extracted.

Results: In total, 114 studies (interventions n = 126) with 5335 participants (mean age: 67.5 years; mean PD duration: 6.8 years) were included. The highest mean number of balance components was found in the multi-modal (5.8), followed by sensory-motor (5.6), task-oriented (4.2), and exergaming (4.0). Intensity strategies were reported in 93 % of the exergaming interventions, which was superior to the other training types (multi-modal (18 %), sensory-motor (17 %), and task-oriented (6 %)).

Conclusions: Multi-modal and sensory-motor interventions had a greater focus on challenging balance components compared to other types of training, while exergaming interventions demonstrated superior reporting of intensity strategies. Future research is encouraged to prioritize implementing intensity strategies and aim to incorporate a broader range of balance components within balance training exercises.

{"title":"Balance exercise interventions in Parkinson's disease: A systematic mapping review of components, progression, and intensity.","authors":"Andreas Wallin, Erika Franzén, Jakob Studsgaard, Mikkel Baltzer Hansen, Sverker Johansson, John Kodal Brincks","doi":"10.1016/j.parkreldis.2025.107310","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107310","url":null,"abstract":"<p><strong>Background: </strong>Rehabilitation in individuals with Parkinson's disease (PD) often includes balance training, but knowledge about optimal training content remains limited.</p><p><strong>Objectives: </strong>To describe the design, content, delivery, and reporting of balance training for individuals with PD, and furthermore, to map the systematic use and reporting of methods monitoring intensity in balance training interventions for individuals with PD.</p><p><strong>Methods: </strong>Six databases were searched. Interventions with at least 50 % of exercises challenging balance control were included. Balance training types (exergaming, multi-modal, sensory-motor integrated, and task-oriented) were categorized based on specific balance exercise components: motor (limits of stability, anticipatory motor strategies, reactive motor strategies, and control of dynamics), sensory (vestibular, visual, and somatosensory systems), and cognitive (dual-tasking in motor or cognitive activities). Training Frequency, Intensity, Time, Type, Volume, and Progression (FITT-VP principles) were extracted.</p><p><strong>Results: </strong>In total, 114 studies (interventions n = 126) with 5335 participants (mean age: 67.5 years; mean PD duration: 6.8 years) were included. The highest mean number of balance components was found in the multi-modal (5.8), followed by sensory-motor (5.6), task-oriented (4.2), and exergaming (4.0). Intensity strategies were reported in 93 % of the exergaming interventions, which was superior to the other training types (multi-modal (18 %), sensory-motor (17 %), and task-oriented (6 %)).</p><p><strong>Conclusions: </strong>Multi-modal and sensory-motor interventions had a greater focus on challenging balance components compared to other types of training, while exergaming interventions demonstrated superior reporting of intensity strategies. Future research is encouraged to prioritize implementing intensity strategies and aim to incorporate a broader range of balance components within balance training exercises.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107310"},"PeriodicalIF":3.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Investigating the causal relationships between lipid traits and dementia with lewy bodies: A mendelian randomization study.

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-31 DOI: 10.1016/j.parkreldis.2025.107312

Canwen Zhang, Xiaoshuang Liu, Juan Wang, Guoqing Zhou, Biao Geng, Ming Hu, Qin Tang

Background: Disruptions in lipid metabolism have been implicated in various neurodegenerative diseases. However, the specific role of lipid species in the pathogenesis of dementia with Lewy bodies (DLB) remains poorly understood. This study aims to investigate potential causal relationships between lipid traits and DLB risk using Mendelian randomization (MR).

Methods: We employed MR analysis to assess causal associations between 179 lipid traits and DLB, utilizing data from comprehensive genome-wide association studies (GWAS). The lipid-related GWAS included 7174 participants, and the DLB-related GWAS included 2981 DLB cases and 4391 healthy controls.

Results: Genetic predispositions to increased levels of phosphatidylinositol (PI) (18:1_20:4) were associated with an elevated risk of DLB. Conversely, genetic predispositions to increased levels of specific phosphatidylcholine (PC) species, including PC (O-18:1_20:4), PC (O-16:0_20:4) and PC (O-18:0_20:4), were found to be protective against DLB. Sensitivity analyses revealed no evidence of heterogeneity or horizontal pleiotropy among the selected instrumental variables.

Conclusions: Our MR study identifies specific lipid species potentially causally linked to DLB risk. Elevated levels of PI (18:1_20:4) were associated with increased DLB risk, while higher levels of certain PC species were found to be protective. These findings offer new insights into the lipid-related mechanisms underlying DLB pathogenesis and highlight potential therapeutic targets.

{"title":"Investigating the causal relationships between lipid traits and dementia with lewy bodies: A mendelian randomization study.","authors":"Canwen Zhang, Xiaoshuang Liu, Juan Wang, Guoqing Zhou, Biao Geng, Ming Hu, Qin Tang","doi":"10.1016/j.parkreldis.2025.107312","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107312","url":null,"abstract":"<p><strong>Background: </strong>Disruptions in lipid metabolism have been implicated in various neurodegenerative diseases. However, the specific role of lipid species in the pathogenesis of dementia with Lewy bodies (DLB) remains poorly understood. This study aims to investigate potential causal relationships between lipid traits and DLB risk using Mendelian randomization (MR).</p><p><strong>Methods: </strong>We employed MR analysis to assess causal associations between 179 lipid traits and DLB, utilizing data from comprehensive genome-wide association studies (GWAS). The lipid-related GWAS included 7174 participants, and the DLB-related GWAS included 2981 DLB cases and 4391 healthy controls.</p><p><strong>Results: </strong>Genetic predispositions to increased levels of phosphatidylinositol (PI) (18:1_20:4) were associated with an elevated risk of DLB. Conversely, genetic predispositions to increased levels of specific phosphatidylcholine (PC) species, including PC (O-18:1_20:4), PC (O-16:0_20:4) and PC (O-18:0_20:4), were found to be protective against DLB. Sensitivity analyses revealed no evidence of heterogeneity or horizontal pleiotropy among the selected instrumental variables.</p><p><strong>Conclusions: </strong>Our MR study identifies specific lipid species potentially causally linked to DLB risk. Elevated levels of PI (18:1_20:4) were associated with increased DLB risk, while higher levels of certain PC species were found to be protective. These findings offer new insights into the lipid-related mechanisms underlying DLB pathogenesis and highlight potential therapeutic targets.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107312"},"PeriodicalIF":3.1,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ECHS 1 mutation: Expanding the genotype of adulthood onset cervico-brachial dystonia with sensorineural hearing loss

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-29 DOI: 10.1016/j.parkreldis.2025.107303

Saranya B. Gomathy DM , Animesh Das DM , Jasmine Parihar DM , Rajesh Kumar Singh DM , Deepti Vibha DM , Manjari Tripathi DM

引用次数: 0

Botulinum neurotoxin and immunomodulation for treatment of hemimasticatory spasms associated with hemifacial atrophy and morphea

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-28 DOI: 10.1016/j.parkreldis.2025.107304

Farsana Mustafa , Kanukuntla Sai Krishna , Divya M. Radhakrishnan , Binod K. Khaitan , Sudheer Arava , Sumanta Das , Divyani Garg , Ayush Agarwal , Awadh Kishor Pandit , Achal Kumar Srivastava

引用次数: 0

Post-shunt prognosis in patients with idiopathic normal-pressure hydrocephalus and comorbid progressive supranuclear palsy: A retrospective, single-center study in Japan.

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-27 DOI: 10.1016/j.parkreldis.2025.107308

Hirokazu Uchigami, Naoyuki Samejima, Akira Watanabe, Nobumasa Kuwana, Takeyuki Tsuchida, Masaaki Saito

引用次数: 0

Clinico-genetic analysis of patients with LRRK2-related Parkinson's disease from a referral centre in India

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-27 DOI: 10.1016/j.parkreldis.2025.107299

Shivani Rath , Vikram V. Holla , Prashant Phulpagar , Sneha D. Kamath , Nitish Kamble , Babylakshmi Muthusamy , Ravi Yadav , Pramod K. Pal

引用次数: 0

Acoustic prosodic parameters associated with Parkinson's disease cognitive impairment

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-27 DOI: 10.1016/j.parkreldis.2025.107306

Ye Liu , Xi-Xi Wang , Xu-Jun Wang , Min-Min Yin , Mo-Yao Tan , Chang-Peng Wang , Tie-Nan Feng , Jie Liu , Yu Wang , Xuan Li , Si-Jia Peng , Xiao-Jin Zhang , Xiao-Ying Zhu , Ya Feng , Eng-King Tan , Yun-Cheng Wu

Background

Acoustic prosodic analysis is a novel approach that can be used to identify patients with mild cognitive impairment (MCI) and dementia in Alzheimer's disease (AD). We hypothesize that acoustic analysis can also differentiate cognitive impairment in Parkinson's disease (PD).

Methods

We investigated acoustic parameters in 90 subjects including 30 PD with normal cognition (PD-NC), 30 PD with mild cognitive impairment (PD-MCI) and 30 PD with dementia (PDD). The reading task “Supermarket Passage” and the picture description task “Cookie Theft” were used. Feature selection and modelling were then performed to systematically evaluate the importance and clinical implications of the acoustic parameters in identifying PD with cognitive impairment.

Results

Analysis of covariance (ANCOVA) and mediation analysis revealed that acoustic parameters were independently associated with cognitive impairment including PDD and PD-MCI. These Acoustic parameters enabled the detection of PD with cognitive impairment with an area under the receiver operating characteristic curve (AUC) of 0.826. Compared with PD-NC, speech rate, pre-verb pause (≥1s), between-utterance pause (≥2s) in the “Cookie Theft” task were the two key cognitive impairment detection factors, which were frequently identified by LASSO model in both PDD and PD-MCI. F₀SD of interrogative sentence was often selected in PDD. In feature selection, AUC was 0.944 in discriminating PDD from PD-NC and AUC was 0.753 in discriminating PD-MCI from PD-NC.

Conclusion

We demonstrated that acoustic parameters are useful in differentiating PD patients with cognitive impairment from patients with normal cognition after adjusting variables such as age, which was also a significant contributor to cognitive decline. Acoustic parameters may be valuable for automated screening the risk of cognitive decline in PD patients. It deserves further investigation.

{"title":"Acoustic prosodic parameters associated with Parkinson's disease cognitive impairment","authors":"Ye Liu , Xi-Xi Wang , Xu-Jun Wang , Min-Min Yin , Mo-Yao Tan , Chang-Peng Wang , Tie-Nan Feng , Jie Liu , Yu Wang , Xuan Li , Si-Jia Peng , Xiao-Jin Zhang , Xiao-Ying Zhu , Ya Feng , Eng-King Tan , Yun-Cheng Wu","doi":"10.1016/j.parkreldis.2025.107306","DOIUrl":"10.1016/j.parkreldis.2025.107306","url":null,"abstract":"<div><h3>Background</h3><div>Acoustic prosodic analysis is a novel approach that can be used to identify patients with mild cognitive impairment (MCI) and dementia in Alzheimer's disease (AD). We hypothesize that acoustic analysis can also differentiate cognitive impairment in Parkinson's disease (PD).</div></div><div><h3>Methods</h3><div>We investigated acoustic parameters in 90 subjects including 30 PD with normal cognition (PD-NC), 30 PD with mild cognitive impairment (PD-MCI) and 30 PD with dementia (PDD). The reading task “Supermarket Passage” and the picture description task “Cookie Theft” were used. Feature selection and modelling were then performed to systematically evaluate the importance and clinical implications of the acoustic parameters in identifying PD with cognitive impairment.</div></div><div><h3>Results</h3><div>Analysis of covariance (ANCOVA) and mediation analysis revealed that acoustic parameters were independently associated with cognitive impairment including PDD and PD-MCI. These Acoustic parameters enabled the detection of PD with cognitive impairment with an area under the receiver operating characteristic curve (AUC) of 0.826. Compared with PD-NC, speech rate, pre-verb pause (≥1s), between-utterance pause (≥2s) in the “Cookie Theft” task were the two key cognitive impairment detection factors, which were frequently identified by LASSO model in both PDD and PD-MCI. F<sub>0</sub>SD of interrogative sentence was often selected in PDD. In feature selection, AUC was 0.944 in discriminating PDD from PD-NC and AUC was 0.753 in discriminating PD-MCI from PD-NC.</div></div><div><h3>Conclusion</h3><div>We demonstrated that acoustic parameters are useful in differentiating PD patients with cognitive impairment from patients with normal cognition after adjusting variables such as age, which was also a significant contributor to cognitive decline. Acoustic parameters may be valuable for automated screening the risk of cognitive decline in PD patients. It deserves further investigation.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"132 ","pages":"Article 107306"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dopamine transporter imaging to predict the risk of aspiration in patients with Parkinson's disease

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-27 DOI: 10.1016/j.parkreldis.2025.107307

Jun Tanimura , Toshiyuki Yamamoto , Yoko Shigemoto , Noriko Sato , Yuji Takahashi

Introduction

Aspiration is a critical complication of dysphagia in Parkinson's disease (PD). Current methods for predicting aspiration are unsuitable for routine implementation owing to time constraints, cost, or insufficient predictive accuracy. We assessed the predictive performance of clinical measures, including dopamine transporter (DaT) imaging, for aspiration risk in patients with PD.

Methods

We retrospectively analyzed data from patients with PD who underwent videofluoroscopic swallowing examinations (VF) and DaT imaging within 12 months. Patients were divided into aspiration and non-aspiration groups based on VF findings. Logistic regression and receiver operating characteristic (ROC) analyses evaluated the predictive performance of DaT imaging parameters including striatal specific binding ratio (SBR) and subregional SBRs, calculated using DaT View and DaTQUANT software.

Results

Among 87 patients (38 females; mean age: 64 years; disease duration: 8.3 years [range: 1–20 years]; modified Hoehn and Yahr stages: 2 [range: 1–4]), 14.9 % experienced aspiration. DaT View striatal SBRs consistently showed significantly lower values in the aspiration group and negative associations with aspiration in logistic regression models, whereas DaTQUANT exhibited limited significance in intergroup differences and associations. ROC analysis showed DaT View striatal SBR of the better side (SBRbetter) as the optimal predictor (sensitivity 0.62, specificity 0.93 at cutoff: 2.03). DaTQUANT subregional analysis identified the anterior putamen as key in aspiration risk.

Conclusion

Reduced SBR in DaT imaging shows potential as an indicator of aspiration risk in patients with PD. These findings can help clinicians identify patients at risk of aspiration, allowing for proactive referral for detailed evaluation.

{"title":"Dopamine transporter imaging to predict the risk of aspiration in patients with Parkinson's disease","authors":"Jun Tanimura , Toshiyuki Yamamoto , Yoko Shigemoto , Noriko Sato , Yuji Takahashi","doi":"10.1016/j.parkreldis.2025.107307","DOIUrl":"10.1016/j.parkreldis.2025.107307","url":null,"abstract":"<div><h3>Introduction</h3><div>Aspiration is a critical complication of dysphagia in Parkinson's disease (PD). Current methods for predicting aspiration are unsuitable for routine implementation owing to time constraints, cost, or insufficient predictive accuracy. We assessed the predictive performance of clinical measures, including dopamine transporter (DaT) imaging, for aspiration risk in patients with PD.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed data from patients with PD who underwent videofluoroscopic swallowing examinations (VF) and DaT imaging within 12 months. Patients were divided into aspiration and non-aspiration groups based on VF findings. Logistic regression and receiver operating characteristic (ROC) analyses evaluated the predictive performance of DaT imaging parameters including striatal specific binding ratio (SBR) and subregional SBRs, calculated using DaT View and DaTQUANT software.</div></div><div><h3>Results</h3><div>Among 87 patients (38 females; mean age: 64 years; disease duration: 8.3 years [range: 1–20 years]; modified Hoehn and Yahr stages: 2 [range: 1–4]), 14.9 % experienced aspiration. DaT View striatal SBRs consistently showed significantly lower values in the aspiration group and negative associations with aspiration in logistic regression models, whereas DaTQUANT exhibited limited significance in intergroup differences and associations. ROC analysis showed DaT View striatal SBR of the better side (SBR<em>better</em>) as the optimal predictor (sensitivity 0.62, specificity 0.93 at cutoff: 2.03). DaTQUANT subregional analysis identified the anterior putamen as key in aspiration risk.</div></div><div><h3>Conclusion</h3><div>Reduced SBR in DaT imaging shows potential as an indicator of aspiration risk in patients with PD. These findings can help clinicians identify patients at risk of aspiration, allowing for proactive referral for detailed evaluation.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"132 ","pages":"Article 107307"},"PeriodicalIF":3.1,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pilot screening for prodromal Parkinson's disease in post-9/11 Veterans with probable rapid eye movement sleep behavior disorder

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders

Pub Date : 2025-01-26 DOI: 10.1016/j.parkreldis.2025.107309

Melissa B. Jones , Dakota Broadway , Taryn White , George R. Jackson , Supriya Singh , Ruosha Li , Erik K. St Louis , Laura E. Marsh , Ricardo E. Jorge

This pilot examined prodromal markers in post-9/11 Veterans with TBI and probable REM sleep behavior disorder (N = 12). RBD was confirmed in 5 of 10 (50 %) participants with polysomnography. Veterans with subthreshold parkinsonism had lower olfactory scores. Future studies should quantify REM sleep without atonia and include broader markers.

引用次数: 0

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