We report an adult-onset KMT2B-related dystonia with a two-stage evolution: focal cervical onset followed by rapid generalization. Whole genome sequencing identified a likely pathogenic KMT2B variant. Bi-pallidal deep brain stimulation led to an 83% motor improvement, highlighting its therapeutic potential in late-onset atypical two-stage evolution KMT2B-dystonia.
{"title":"Bi-pallidal deep brain stimulation as an effective therapy in atypical two-stage evolution adult-onset KMT2B-related dystonia","authors":"Georges-Junior Kahwagi , Cécile Hubsch , Lydie Burglen , Jean-Philippe Brandel , Sophie Sangla , Clément Desjardins","doi":"10.1016/j.prdoa.2025.100314","DOIUrl":"10.1016/j.prdoa.2025.100314","url":null,"abstract":"<div><div>We report an adult-onset KMT2B-related dystonia with a two-stage evolution: focal cervical onset followed by rapid generalization. Whole genome sequencing identified a likely pathogenic KMT2B variant. Bi-pallidal deep brain stimulation led to an 83% motor improvement, highlighting its therapeutic potential in late-onset atypical two-stage evolution<!--> <!-->KMT2B-dystonia.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100314"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Inflammation plays a pivotal role in the pathogenesis of Parkinson’s disease (PD). The aim of this study was to explore whether peripheral blood markers are associated with subsequent disease outcomes in patients with PD.
Methods
We conducted a follow-up study among consecutive patients with PD and investigated the association between outcomes and baseline blood markers, including neutrophil, lymphocyte, and monocyte counts; the neutrophil-to-lymphocyte ratio; motor/nonmotor symptoms; and radionuclide scanning findings.
Results
Of the 112 patients, 97 (87%) met the eligible criteria. Over the average 1800-day follow-up period, 33 patients completed the full follow-up, 30 patients reached an endpoint (death, 3; hospitalization, 12; and placement in a nursing home, 6; home medical care 9), and 34 patients were censored. At the baseline assessment, patients who reached an endpoint were older and had higher Hoehn and Yahr stages and motor symptom scores, larger reductions in cardiac metaiodobenzylguanidine scintigraphy accumulation and lower peripheral lymphocyte counts than patients who completed follow-up or were censored. Kaplan–Meier curve analysis revealed that patients who had low peripheral lymphocyte counts had a shorter time to reach an endpoint than those with preserved lymphocyte counts. According to the multivariate Cox proportional hazards regression analysis, motor symptoms and peripheral lymphocyte count were associated with reaching an endpoint.
Conclusions
Among the blood biomarkers, a lower lymphocyte count was associated with worse outcomes in patients with PD. Low peripheral lymphocyte counts may be predictive of subsequent worse PD outcomes.
{"title":"Prognostic significance of peripheral lymphocyte counts in Parkinson’s disease","authors":"Shinsuke Omata, Hiroaki Fujita, Hirotaka Sakuramoto, Keitaro Ogaki, Keisuke Suzuki","doi":"10.1016/j.prdoa.2025.100344","DOIUrl":"10.1016/j.prdoa.2025.100344","url":null,"abstract":"<div><h3>Background</h3><div>Inflammation plays a pivotal role in the pathogenesis of Parkinson’s disease (PD). The aim of this study was to explore whether peripheral blood markers are associated with subsequent disease outcomes in patients with PD.</div></div><div><h3>Methods</h3><div>We conducted a follow-up study among consecutive patients with PD and investigated the association between outcomes and baseline blood markers, including neutrophil, lymphocyte, and monocyte counts; the neutrophil-to-lymphocyte ratio; motor/nonmotor symptoms; and radionuclide scanning findings.</div></div><div><h3>Results</h3><div>Of the 112 patients, 97 (87%) met the eligible criteria. Over the average 1800-day follow-up period, 33 patients completed the full follow-up, 30 patients reached an endpoint (death, 3; hospitalization, 12; and placement in a nursing home, 6; home medical care 9), and 34 patients were censored. At the baseline assessment, patients who reached an endpoint were older and had higher Hoehn and Yahr stages and motor symptom scores, larger reductions in cardiac metaiodobenzylguanidine scintigraphy accumulation and lower peripheral lymphocyte counts than patients who completed follow-up or were censored. Kaplan–Meier curve analysis revealed that patients who had low peripheral lymphocyte counts had a shorter time to reach an endpoint than those with preserved lymphocyte counts. According to the multivariate Cox proportional hazards regression analysis, motor symptoms and peripheral lymphocyte count were associated with reaching an endpoint.</div></div><div><h3>Conclusions</h3><div>Among the blood biomarkers, a lower lymphocyte count was associated with worse outcomes in patients with PD. Low peripheral lymphocyte counts may be predictive of subsequent worse PD outcomes.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100344"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143927814","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}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100312
Parastoo Yousefi , Shahrzad Ghadirian , Maryam Mobedi , Mehrzad Jafarzadeh , Adib Alirezaei , Ali Gholami , Alireza Tabibzadeh
Background
Neurodegenerative diseases are mainly a consequence of degenerated proteins in neurons. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders and is characterized by Lewy body deposition. Autophagy is known as one of the cell maintenance mechanisms. Autophagy targets are damaged or degenerated macromolecules and organelles for lysosomal degradation. The role of disrupted autophagy in PD was established earlier. In this regard, the current study aimed to evaluate the frequency and status of the autophagy gene polymorphisms in PD by a systematic review approach.
Materials and methods
In the current study, electronic databases including Scopus, PubMed, and Science Direct were used for the search. The search was performed by using Parkinson’s disease, autophagy, autophagy-related gene, ATG, Single-nucleotide polymorphisms, variant, Sequence variants, and with a date limitation of 2010 to 2023. All original research papers in the English language that evaluate the ATG polymorphisms in PD were included in the study.
Results
The conducted search leads to 2626 primary studies screened based on the inclusion criteria. After the screening stage, 8 studies were included. ATG7 rs1375206 and ATG5 rs510432, rs573775 and rs17587319 were associated with PD. However, some other polymorphisms in ATGs that were not associated with PD were listed.
Conclusion
In conclusion, regardless of the critical role of autophagy in PD pathogenesis, it seems that ATG16 and ATG7 polymorphisms are not associated with PD; however, ATG7 rs1375206 needs more evaluation for a clearer conclusion in future studies. ATG5 and ATG12 polymorphisms seem to be more important in PD. More comprehensive studies about all ATG5, 7, 12, and 16 seem to be urgently required for a conclusive judgment about their role in PD or even other neurodegenerative disorders.
{"title":"Autophagy related genes polymorphisms in Parkinson’s Disease; A systematic review of literature","authors":"Parastoo Yousefi , Shahrzad Ghadirian , Maryam Mobedi , Mehrzad Jafarzadeh , Adib Alirezaei , Ali Gholami , Alireza Tabibzadeh","doi":"10.1016/j.prdoa.2025.100312","DOIUrl":"10.1016/j.prdoa.2025.100312","url":null,"abstract":"<div><h3>Background</h3><div>Neurodegenerative diseases are mainly a consequence of degenerated proteins in neurons. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders and is characterized by Lewy body deposition. Autophagy is known as one of the cell maintenance mechanisms. Autophagy targets are damaged or degenerated macromolecules and organelles for lysosomal degradation. The role of disrupted autophagy in PD was established earlier. In this regard, the current study aimed to evaluate the frequency and status of the autophagy gene polymorphisms in PD by a systematic review approach.</div></div><div><h3>Materials and methods</h3><div>In the current study, electronic databases including Scopus, PubMed, and Science Direct were used for the search. The search was performed by using Parkinson’s disease, autophagy, autophagy-related gene, ATG, Single-nucleotide polymorphisms, variant, Sequence variants, and with a date limitation of 2010 to 2023. All original research papers in the English language that evaluate the ATG polymorphisms in PD were included in the study.</div></div><div><h3>Results</h3><div>The conducted search leads to 2626 primary studies screened based on the inclusion criteria. After the screening stage, 8 studies were included. ATG7 rs1375206 and ATG5 rs510432, rs573775 and rs17587319 were associated with PD. However, some other polymorphisms in ATGs that were not associated with PD were listed.</div></div><div><h3>Conclusion</h3><div>In conclusion, regardless of the critical role of autophagy in PD pathogenesis, it seems that ATG16 and ATG7 polymorphisms are not associated with PD; however, ATG7 rs1375206 needs more evaluation for a clearer conclusion in future studies. ATG5 and ATG12 polymorphisms seem to be more important in PD. More comprehensive studies about all ATG5, 7, 12, and 16 seem to be urgently required for a conclusive judgment about their role in PD or even other neurodegenerative disorders.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100312"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143509516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100362
Allison M. Haussler , Sidney T. Baudendistel , Lauren E. Tueth , Gammon M. Earhart
Introduction
Despite extensive evidence for its numerous benefits, many people with Parkinson’s disease (PwPD) do not meet recommended exercise guidelines. Past work investigated motivators and barriers to exercise generally. The purpose of this study was to synthesize motivator and barrier data to individual forms of exercise to better assess what participants are willing and able to do.
Methods
PwPD were recruited to complete a remote survey, selecting exercise forms they engage in, are unwilling to engage in, and rate their level of agreement with pre-determined motivator and barrier statements. Specific exercises and motivator and barrier statements were adapted from the literature; however, participants were able to respond with an exercise or motivator/barrier not listed.
Results
PwPD (n = 147) completed the survey and were included in analyses. Eighty-eight percent of participants agreed exercise is important for managing PD symptoms. Walking was the most popular exercise individuals engaged in (n = 106); dance was the least (n = 4). Belief that exercise was beneficial for general health was the top motivator; dislike and fear of falling were top barriers. Belief that there is scientific evidence was the least common motivator across exercises, except for boxing.
Conclusion
Clinicians can utilize these results to educate PwPD on the importance of exercise for fall prevention and other aspects of care. Additionally, scientific evidence may best be disseminated in clinician-patient interactions, as “recommendation from a clinician” was a high ranked motivator. It is important to assess motivators and barriers to individual exercise forms to develop more personal, effective exercise plans.
{"title":"Exploring behavior, motivation, and barriers to exercise in Parkinson disease","authors":"Allison M. Haussler , Sidney T. Baudendistel , Lauren E. Tueth , Gammon M. Earhart","doi":"10.1016/j.prdoa.2025.100362","DOIUrl":"10.1016/j.prdoa.2025.100362","url":null,"abstract":"<div><h3>Introduction</h3><div>Despite extensive evidence for its numerous benefits, many people with Parkinson’s disease (PwPD) do not meet recommended exercise guidelines. Past work investigated motivators and barriers to exercise generally. The purpose of this study was to synthesize motivator and barrier data to individual forms of exercise to better assess what participants are willing and able to do.</div></div><div><h3>Methods</h3><div>PwPD were recruited to complete a remote survey, selecting exercise forms they engage in, are unwilling to engage in, and rate their level of agreement with pre-determined motivator and barrier statements. Specific exercises and motivator and barrier statements were adapted from the literature; however, participants were able to respond with an exercise or motivator/barrier not listed.</div></div><div><h3>Results</h3><div>PwPD (n = 147) completed the survey and were included in analyses. Eighty-eight percent of participants agreed exercise is important for managing PD symptoms. Walking was the most popular exercise individuals engaged in (n = 106); dance was the least (n = 4). Belief that exercise was beneficial for general health was the top motivator; dislike and fear of falling were top barriers. Belief that there is scientific evidence was the least common motivator across exercises, except for boxing.</div></div><div><h3>Conclusion</h3><div>Clinicians can utilize these results to educate PwPD on the importance of exercise for fall prevention and other aspects of care. Additionally, scientific evidence may best be disseminated in clinician-patient interactions, as “recommendation from a clinician” was a high ranked motivator. It is important to assess motivators and barriers to individual exercise forms to develop more personal, effective exercise plans.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100362"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144549272","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}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2024.100296
Seo Hyun Hong , Seoyeon Kim , Seungmin Lee , Bora Jin , Jung Hwan Shin , Kyung Ah Woo , Han-Joon Kim
Background
There remains a significant gap in systematic research on healthcare utilization behaviors and the influencing factors for patients with Parkinson’s disease (PD), particularly those in late stages.
Methods
PD patients in late stage (Hoehn and Yahr (HY) stages 4 and 5) and their caregivers from Seoul National University Hospital Movement Disorders Clinic participated. A total of 103 respondents completed a questionnaire covering medical utilization behaviors, perceptions of face-to-face and telemedicine consultations, and additional medical service needs. Descriptive analysis was conducted based on HY stage, age, and travel time to the hospital.
Results
82.1% of patients in HY4 make more than 50% of in-person visits by themselves or with caregivers, compared with only 38.9% of patients in HY5. Despite proxy visits by caregivers were common, audiovisual or written materials about the patient’s condition were underused (63% answered ‘never’). Over three-quarters of patients did not receive rehabilitation therapy, mainly due to mobility issues and the lack of nearby facilities. One third of respondents were open to telemedicine, with differing preferences between age groups. 22% of HY5 patients or their caregivers were willing to pay more for telemedicine than in-person visit.
Conclusion
This study seeks to understand hospital use patterns and needs in late-stage PD patients and their caregivers. Current treatment framework for PD has areas that, if improved, could significantly enhance the quality of care. Telemedicine offers an opportunity to enhance PD education and assessment, introducing new methods for remotely measuring symptoms.
背景：对于帕金森病（PD）患者特别是晚期患者的医疗保健利用行为及其影响因素的系统研究仍存在较大的空白。方法：首尔大学医院运动障碍门诊的PD晚期（Hoehn and Yahr (HY) 4期和5期）患者及其护理人员参与研究。103名受访者完成了一份调查问卷，内容包括医疗利用行为、对面对面和远程医疗咨询的看法以及额外的医疗服务需求。根据HY分期、年龄和到医院的时间进行描述性分析。结果：HY4中82.1%的患者自行或由护理人员亲自就诊的比例超过50%，而HY5中只有38.9%。尽管护理人员的代理访问很常见，但有关患者病情的视听或书面材料没有得到充分利用（63%的人回答“从未”）。超过四分之三的患者没有接受康复治疗，主要原因是行动不便和附近缺乏设施。三分之一的受访者对远程医疗持开放态度，不同年龄组的人有不同的偏好。22%的HY5患者或其护理人员愿意为远程医疗支付比亲自就诊更多的费用。结论：本研究旨在了解晚期PD患者及其护理人员的医院使用模式和需求。目前帕金森病的治疗框架有一些领域，如果得到改进，可以显著提高护理质量。远程医疗为加强PD教育和评估提供了机会，引入了远程测量症状的新方法。
{"title":"Hospital utilization and telemedicine preferences in patients with late-stage Parkinson’s disease and caregivers","authors":"Seo Hyun Hong , Seoyeon Kim , Seungmin Lee , Bora Jin , Jung Hwan Shin , Kyung Ah Woo , Han-Joon Kim","doi":"10.1016/j.prdoa.2024.100296","DOIUrl":"10.1016/j.prdoa.2024.100296","url":null,"abstract":"<div><h3>Background</h3><div>There remains a significant gap in systematic research on healthcare utilization behaviors and the influencing factors for patients with Parkinson’s disease (PD), particularly those in late stages.</div></div><div><h3>Methods</h3><div>PD patients in late stage (Hoehn and Yahr (HY) stages 4 and 5) and their caregivers from Seoul National University Hospital Movement Disorders Clinic participated. A total of 103 respondents completed a questionnaire covering medical utilization behaviors, perceptions of face-to-face and telemedicine consultations, and additional medical service needs. Descriptive analysis was conducted based on HY stage, age, and travel time to the hospital.</div></div><div><h3>Results</h3><div>82.1% of patients in HY4 make more than 50% of in-person visits by themselves or with caregivers, compared with only 38.9% of patients in HY5. Despite proxy visits by caregivers were common, audiovisual or written materials about the patient’s condition were underused (63% answered ‘never’). Over three-quarters of patients did not receive rehabilitation therapy, mainly due to mobility issues and the lack of nearby facilities. One third of respondents were open to telemedicine, with differing preferences between age groups. 22% of HY5 patients or their caregivers were willing to pay more for telemedicine than in-person visit.</div></div><div><h3>Conclusion</h3><div>This study seeks to understand hospital use patterns and needs in late-stage PD patients and their caregivers. Current treatment framework for PD has areas that, if improved, could significantly enhance the quality of care. Telemedicine offers an opportunity to enhance PD education and assessment, introducing new methods for remotely measuring symptoms.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100296"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11754006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Specialized healthcare facilities for Parkinson’s disease (PD) patients require professionals with comprehensive knowledge of disease management and palliative care. This intervention study evaluated a blended learning program for healthcare professionals (n = 117) at five newly established PD care facilities in Japan.
Methods
The program integrated theoretical education, active learning, and role-playing exercises. Outcomes were evaluated by scores on self-rated knowledge and confidence in palliative care for PD patients, End-of-Life Professional Caregiver Survey (EPCS), and Team STEPPS Teamwork Attitudes Questionnaire.
Results
The scores for self-rated knowledge of palliative care increased from 3.36 to 5.28, and confidence improved from 3.79 to 5.05 (p < 0.001). Although overall teamwork attitudes remained stable, situation-monitoring skills improved (p = 0.045). The EPCS total score increased from 2.36 to 2.55 (p < 0.001), with improvements in all subscales. Multiple regression analysis revealed that pre-intervention knowledge (β = 0.586, p < 0.001) and professional role were associated with improvement of post-intervention knowledge scores. Notably, professional physiotherapists showed higher improvements than care management workers (β = 1.995, p = 0.002).
Conclusion
The blended learning program, combining theoretical education, active learning, and role-playing exercises, effectively enhanced the palliative care competencies of healthcare professionals in PD care facilities. Future studies should examine the long-term retention of these competencies and their impact on patient care outcomes.
介绍：帕金森病（PD）患者的专业医疗设施需要具有疾病管理和姑息治疗综合知识的专业人员。本干预研究评估了日本五家新成立的PD护理机构的医疗保健专业人员（n = 117）的混合学习计划。方法采用理论教育、主动学习和角色扮演练习相结合的教学方法。结果通过PD患者姑息治疗知识和信心自评、临终专业照护者调查（EPCS）和Team STEPPS团队合作态度问卷进行评估。结果姑息治疗知识自评得分由3.36分提高到5.28分，信心由3.79分提高到5.05分(p <；0.001)。虽然整体团队合作态度保持稳定，但情境监控技能有所提高（p = 0.045）。EPCS总分由2.36分提高到2.55分(p <；0.001)，所有亚量表均有改善。多元回归分析显示，干预前知识(β = 0.586, p <；0.001)和专业角色与干预后知识得分的提高相关。值得注意的是，专业物理治疗师比护理管理工作者有更高的改善（β = 1.995, p = 0.002）。结论将理论教育、主动学习和角色扮演练习相结合的混合式学习方案能有效提高PD护理机构医护人员的姑息治疗能力。未来的研究应该检查这些能力的长期保留及其对患者护理结果的影响。
{"title":"Evaluation of a blended learning program designed to improve clinical practice skills in novice healthcare professionals caring for patients with Parkinson’s disease","authors":"Koichi Nagaki , Wataru Matsushita , Makio Takahashi","doi":"10.1016/j.prdoa.2025.100367","DOIUrl":"10.1016/j.prdoa.2025.100367","url":null,"abstract":"<div><h3>Introduction</h3><div>Specialized healthcare facilities for Parkinson’s disease (PD) patients require professionals with comprehensive knowledge of disease management and palliative care. This intervention study evaluated a blended learning program for healthcare professionals (n = 117) at five newly established PD care facilities in Japan.</div></div><div><h3>Methods</h3><div>The program integrated theoretical education, active learning, and role-playing exercises. Outcomes were evaluated by scores on self-rated knowledge and confidence in palliative care for PD patients, End-of-Life Professional Caregiver Survey (EPCS), and Team STEPPS Teamwork Attitudes Questionnaire.</div></div><div><h3>Results</h3><div>The scores for self-rated knowledge of palliative care increased from 3.36 to 5.28, and confidence improved from 3.79 to 5.05 (<em>p</em> < 0.001). Although overall teamwork attitudes remained stable, situation-monitoring skills improved (<em>p</em> = 0.045). The EPCS total score increased from 2.36 to 2.55 (<em>p</em> < 0.001), with improvements in all subscales. Multiple regression analysis revealed that pre-intervention knowledge (β = 0.586, <em>p</em> < 0.001) and professional role were associated with improvement of post-intervention knowledge scores. Notably, professional physiotherapists showed higher improvements than care management workers (β = 1.995, <em>p</em> = 0.002).</div></div><div><h3>Conclusion</h3><div>The blended learning program, combining theoretical education, active learning, and role-playing exercises, effectively enhanced the palliative care competencies of healthcare professionals in PD care facilities. Future studies should examine the long-term retention of these competencies and their impact on patient care outcomes.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100367"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144596382","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}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100409
Simin Jamshidi , Arturo I. Espinoza , Jonathan T. Heinzman , Patrick May , Ergun Y. Uc , Nandakumar S. Narayanan , Soura Dasgupta
Background
Mortality is increased in Parkinson’s disease (PD) and is difficult to predict because of its heterogeneity and the availability of few reliable prognostic markers.
Objectives
We used electroencephalography (EEG) recordings and the Linear Predictive Coding EEG Algorithm for PD (LEAPD) to classify 3-year mortality status and correlate LEAPD indices with time to death.
Methods
2-minutes resting-state EEG from 94 PD patients was used for binary classification of 3-year mortality status (22 deceased). Single-channel classification using a balanced dataset of 44 was performed using leave-one-out cross-validation (LOOCV). Robustness was evaluated by truncating the recordings. LOOCV Spearman’s correlation coefficient (ρ) was obtained between LEAPD indices and time to death. Optimum hyperparameters obtained using a balanced training dataset of 30 were tested on the remaining 64 by 10,000 randomized comparisons of 7 vs 7, using 5 channel combinations. Separate hyperparameters for the best ρ, obtained using the same training dataset, were used for out-of-sample correlation for the remaining 7 deceased.
Results
The deceased participants were older and had more severe disease and worse cognition at baseline. Several EEG channels yielded 100 % LOOCV accuracy. Five had robust performance under data truncation. The correlations ranged between ρ = −0.59 to −0.86 and were significant after adjusting for age, cognitive and motor impairment. Out-of-sample testing using the best-performing 5-channel combination yielded a mean accuracy of 83 %. Out-of-sample Spearman’s ρ was −0.82.
Conclusions
Short resting EEG using machine learning algorithms such as linear predictive coding can predict mortality in PD.
帕金森氏病（PD）的死亡率增加，由于其异质性和缺乏可靠的预后标志物，难以预测。目的利用脑电图（EEG）记录和线性预测编码脑电图算法（Linear Predictive Coding EEG Algorithm for PD， LEAPD）对PD患者3年死亡状态进行分类，并将LEAPD指标与死亡时间进行关联。方法对94例PD患者的2分钟静息状态脑电图进行3年死亡状态二值分类（22例死亡）。使用44个平衡数据集的单通道分类使用留一交叉验证（LOOCV）进行。通过截断记录来评估稳健性。获得了LEAPD指标与死亡时间之间的LOOCV Spearman相关系数（ρ）。使用30个平衡训练数据集获得的最佳超参数在剩余的64个数据集上通过10,000个随机比较7 vs 7，使用5个通道组合进行测试。使用相同训练数据集获得的最佳ρ的单独超参数用于剩余7名死者的样本外相关性。结果死亡的参与者年龄较大，疾病更严重，基线认知能力更差。几个EEG通道获得了100%的LOOCV精度。其中5个在数据截断情况下表现稳健。相关性在ρ = - 0.59至- 0.86之间，并且在调整年龄、认知和运动障碍后具有显著性。使用性能最好的5通道组合进行样本外检测，平均准确率为83%。样本外Spearman 's ρ为- 0.82。结论采用线性预测编码等机器学习算法的短息脑电图可以预测帕金森病的死亡率。
{"title":"Linear predictive coding electroencephalography algorithms predict mortality in Parkinson’s disease","authors":"Simin Jamshidi , Arturo I. Espinoza , Jonathan T. Heinzman , Patrick May , Ergun Y. Uc , Nandakumar S. Narayanan , Soura Dasgupta","doi":"10.1016/j.prdoa.2025.100409","DOIUrl":"10.1016/j.prdoa.2025.100409","url":null,"abstract":"<div><h3>Background</h3><div>Mortality is increased in Parkinson’s disease (PD) and is difficult to predict because of its heterogeneity and the availability of few reliable prognostic markers.</div></div><div><h3>Objectives</h3><div>We used electroencephalography (EEG) recordings and the Linear Predictive Coding EEG Algorithm for PD (LEAPD) to classify 3-year mortality status and correlate LEAPD indices with time to death.</div></div><div><h3>Methods</h3><div>2-minutes resting-state EEG from 94 PD patients was used for binary classification of 3-year mortality status (22 deceased). Single-channel classification using a balanced dataset of 44 was performed using leave-one-out cross-validation (LOOCV). Robustness was evaluated by truncating the recordings. LOOCV Spearman’s correlation coefficient (ρ) was obtained between LEAPD indices and time to death. Optimum hyperparameters obtained using a balanced training dataset of 30 were tested on the remaining 64 by 10,000 randomized comparisons of 7 vs 7, using 5 channel combinations. Separate hyperparameters for the best ρ, obtained using the same training dataset, were used for out-of-sample correlation for the remaining 7 deceased.</div></div><div><h3>Results</h3><div>The deceased participants were older and had more severe disease and worse cognition at baseline. Several EEG channels yielded 100 % LOOCV accuracy. Five had robust performance under data truncation. The correlations ranged between ρ = −0.59 to −0.86 and were significant after adjusting for age, cognitive and motor impairment. Out-of-sample testing using the best-performing 5-channel combination yielded a mean accuracy of 83 %. Out-of-sample Spearman’s ρ was −0.82.</div></div><div><h3>Conclusions</h3><div>Short resting EEG using machine learning algorithms such as linear predictive coding can predict mortality in PD.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100409"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145690402","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}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100406
Jakub Kasprzak , Jarosław Dulski , Michał Schinwelski , Magdalena Krygier , Michael Zech , Jarosław Sławek
Introduction
Dystonia-deafness syndrome is a rare disorder characterized by dystonia with sensorineural hearing impairment. While various genetic causes have been identified, many cases remain unexplained. Deep brain stimulation of the globus pallidus internus is an established treatment for dystonia, but outcomes vary depending on the underlying cause.
Methods
We conducted a long-term follow-up of a 31-year-old male diagnosed with DDS, initially reported in 2016.
Results
The patient exhibited progressive generalized dystonia and sensorineural hearing loss. At the age of 19, bilateral DBS-GPi implantation was performed, resulting in sustained symptom improvement until the age of 25. However, progressive worsening of dystonia led to the initiation of adjunctive botulinum toxin therapy, which initially provided symptom relief. At the age of 26, disruption of a DBS extension wire caused acute symptom exacerbation, necessitating surgical replacement. Further clinical deterioration was exacerbated by a hardware-related infection, leading to surgical removal of the left DBS system at the age of 30, which prompted placement of a percutaneous endoscopic gastrostomy. At the age of 31, the right-sided DBS system was also removed. Bilateral reimplantation of the DBS-GPi system was performed at the age of 31. Trio exome sequencing identified a de novo heterozygous pathogenic ACTB variant, p.Arg183Trp.
Conclusion
This case highlights both the benefits and limitations of DBS in ACTB-associated dystonia. While this mutation may predict DBS efficacy, long-term outcomes are influenced by disease progression, hardware complications, and systemic factors. Further research is needed to establish ACTB variants as predictive markers for DBS responsiveness.
{"title":"ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited","authors":"Jakub Kasprzak , Jarosław Dulski , Michał Schinwelski , Magdalena Krygier , Michael Zech , Jarosław Sławek","doi":"10.1016/j.prdoa.2025.100406","DOIUrl":"10.1016/j.prdoa.2025.100406","url":null,"abstract":"<div><h3>Introduction</h3><div>Dystonia-deafness syndrome is a rare disorder characterized by dystonia with sensorineural hearing impairment. While various genetic causes have been identified, many cases remain unexplained. Deep brain stimulation of the globus pallidus internus is an established treatment for dystonia, but outcomes vary depending on the underlying cause.</div></div><div><h3>Methods</h3><div>We conducted a long-term follow-up of a 31-year-old male diagnosed with DDS, initially reported in 2016.</div></div><div><h3>Results</h3><div>The patient exhibited progressive generalized dystonia and sensorineural hearing loss. At the age of 19, bilateral DBS-GPi implantation was performed, resulting in sustained symptom improvement until the age of 25. However, progressive worsening of dystonia led to the initiation of adjunctive botulinum toxin therapy, which initially provided symptom relief. At the age of 26, disruption of a DBS extension wire caused acute symptom exacerbation, necessitating surgical replacement. Further clinical deterioration was exacerbated by a hardware-related infection, leading to surgical removal of the left DBS system at the age of 30, which prompted placement of a percutaneous endoscopic gastrostomy. At the age of 31, the right-sided DBS system was also removed. Bilateral reimplantation of the DBS-GPi system was performed at the age of 31. Trio exome sequencing identified a <em>de novo</em> heterozygous pathogenic <em>ACTB</em> variant, p.Arg183Trp.</div></div><div><h3>Conclusion</h3><div>This case highlights both the benefits and limitations of DBS in <em>ACTB</em>-associated dystonia. While this mutation may predict DBS efficacy, long-term outcomes are influenced by disease progression, hardware complications, and systemic factors. Further research is needed to establish <em>ACTB</em> variants as predictive markers for DBS responsiveness.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100406"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145575940","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}
Pub Date : 2025-01-01DOI: 10.1016/j.prdoa.2025.100404
Dung Thi Hoang , Frank Xing , Daniel Truong
Pain is among the most common non-motor symptoms in patients with Parkinson’s disease. Pain is generally underestimated and undertreated in this population, with approximately 50% of patients not receiving analgesic treatment. Pain is complex and has multiple etiologies. Improved understanding of the types of pain, their underlying mechanisms, and appropriate treatments may help neurologists to identify pain earlier, classify it appropriately, and determine the best treatment approach to reduce patient burden and outcomes. In this review, we describe the classification and types of pain, relevant pathophysiology, and both pharmacologic and nonpharmacologic therapies.
{"title":"Characteristics of pain symptoms in Parkinson’s disease","authors":"Dung Thi Hoang , Frank Xing , Daniel Truong","doi":"10.1016/j.prdoa.2025.100404","DOIUrl":"10.1016/j.prdoa.2025.100404","url":null,"abstract":"<div><div>Pain is among the most common non-motor symptoms in patients with Parkinson’s disease. Pain is generally underestimated and undertreated in this population, with approximately 50% of patients not receiving analgesic treatment. Pain is complex and has multiple etiologies. Improved understanding of the types of pain, their underlying mechanisms, and appropriate treatments may help neurologists to identify pain earlier, classify it appropriately, and determine the best treatment approach to reduce patient burden and outcomes. In this review, we describe the classification and types of pain, relevant pathophysiology, and both pharmacologic and nonpharmacologic therapies.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"13 ","pages":"Article 100404"},"PeriodicalIF":1.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145575941","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}
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