Parkinsonism & related disorders最新文献

{"title":"Risk factors and evolution of weight loss in Parkinson's disease: A 9-year population-based study","authors":"Ida Kristiansen ,&nbsp;Ylva Hivand Hiorth ,&nbsp;Anastasia Ushakova ,&nbsp;Ole-Bjørn Tysnes ,&nbsp;Guido Alves","doi":"10.1016/j.parkreldis.2024.107181","DOIUrl":"10.1016/j.parkreldis.2024.107181","url":null,"abstract":"<div><h3>Introduction</h3><div>Weight loss is considered a common complication of Parkinson's disease (PD), but there are few prospective longitudinal studies on weight loss in patients followed from time of PD diagnosis. We sought to determine the frequency, evolution and risk factors of weight loss in a representative incident PD cohort.</div></div><div><h3>Methods</h3><div>In this prospective population-based observational study, we followed 180 newly-diagnosed, initially drug-naïve PD patients and 161 controls with repetitive weight examinations over 9 years. We used Cox regression models with adjustment for potential confounders to identify independent risk factors of clinically significant (&gt;10 %) weight loss.</div></div><div><h3>Results</h3><div>Mean % weight change during follow-up was −3.9 (±11.2) in patients and −1.4 (±8.1) in controls (p = 0.016). Clinically significant weight loss was observed in 26.7 % of patients and 10.6 % of controls (RR 2.53; 95 % CI 1.52–4.21; p &lt; 0.001). Age was the only independent baseline risk factor for weight loss (HR 1.06 per year; 95 % CI 1.03–1.10; p &lt; 0.001). Additional time-dependent risk factors were presence of olfactory impairment (HR 2.42; 95 % CI 1.14–5.15; p = 0.021), presence of dyskinesias (HR 3.14; 95 % CI 1.58–6.23; p = 0.001), and cognitive impairment (HR per MMSE unit 0.90; 95 % CI 0.82–0.99; p = 0.036). Dopamine agonist use reduced the risk of weight loss during follow-up (HR 0.44; 95 % CI 0.24–0.82; p = 0.007).</div></div><div><h3>Conclusion</h3><div>The risk of weight loss is more than doubled in the general PD population and associated with both disease-related features and drug-related complications. This suggests a multifactorial nature of weight loss in PD, which is important to consider in research and clinical practice.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107181"},"PeriodicalIF":3.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142561300","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}

{"title":"Online unsupervised performance-based cognitive testing: A feasible and reliable approach to scalable cognitive phenotyping of Parkinson's patients","authors":"Nasri Balit,&nbsp;Sophie Sun,&nbsp;Yilin Zhang,&nbsp;Madeleine Sharp","doi":"10.1016/j.parkreldis.2024.107183","DOIUrl":"10.1016/j.parkreldis.2024.107183","url":null,"abstract":"<div><h3>Introduction</h3><div>A better understanding of the heterogeneity in the cognitive and mood symptoms of Parkinson's disease will require research conducted in large samples of patients. Fully online and remote research assessments present interesting opportunities for scaling up research but the feasibility and reliability of remote and fully unsupervised performance-based cognitive testing in individuals with Parkinson's disease is unknown. This study aims to establish the feasibility and reliability of this testing modality in Parkinson's patients.</div></div><div><h3>Methods</h3><div>Sixty-seven Parkinson's patients and 36 older adults completed two sessions of an at-home, online battery of five cognitive tasks and three self-report questionnaires. Feasibility was established by examining completion rates and data quality. Test-retest reliability was evaluated using the Intraclass Correlation Coefficient (ICC (2,1)).</div></div><div><h3>Results</h3><div>Overall completion rates and data quality were high with few participant exclusions across tasks. With regards to test-retest reliability, intraclass correlation coefficients were quite variable across measures extracted from a task as well as across tasks, but at least one standard measure from each task achieved moderate to good reliability levels. Self-report questionnaires achieved a higher test-retest reliability than cognitive tasks. Feasibility and reliability were similar between Parkinson's patients and older adults.</div></div><div><h3>Conclusion</h3><div>These results demonstrate that remote and unsupervised testing is a feasible and reliable method of measuring cognition and mood in Parkinson's patients that achieves levels of test-retest reliability that are comparable to those reported for standard in-person testing.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107183"},"PeriodicalIF":3.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505761","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}

{"title":"Temporal ordering of cognitive impairment in Parkinson's disease patients based on disease progression models","authors":"Carlos Platero ,&nbsp;José Ángel Pineda-Pardo","doi":"10.1016/j.parkreldis.2024.107184","DOIUrl":"10.1016/j.parkreldis.2024.107184","url":null,"abstract":"<div><h3>Introduction</h3><div>Identifying Parkinson's disease (PD) patients at risk of cognitive decline is crucial for enhancing clinical interventions. While several models predicting cognitive decline in PD exist, a new machine learning framework called disease progression models (DPMs) offers a data-driven approach to understand disease evolution.</div></div><div><h3>Methods</h3><div>We enrolled 423 PD patients and 196 healthy controls from the Parkinson's Progression Markers Initiative (PPMI). Our study encompassed a range of biomarkers, including motor, neurocognitive, and neuroimaging evaluations at baseline and annually. A methodology was employed to select optimal combinations of biomarkers for constructing DPMs with superior predictive capabilities for both diagnosing and estimating conversion times toward cognitive decline.</div></div><div><h3>Results</h3><div>At baseline, the approach showed excellent performance in identifying individuals at high risk of cognitive decline within the first five years. Furthermore, the proposed timeline from cognitive impairment to dementia was also used to explore clinical events such as the onset of cognitive impairment, the development of dementia or amyloid pathology. The presence of amyloid pathology did not alter the progression of cognitive impairment among PD patients.</div></div><div><h3>Conclusions</h3><div>Neuropsychological measures and certain biomarkers, including cerebrospinal fluid (CSF) amyloid beta 42 (<em>Aβ</em>_<em>42</em>) and dopamine transporter deficits, can be used to predict cognitive decline and estimate a timeline from cognitive impairment to dementia, with amyloid pathology preceding the onset of dementia in many cases. Our DPMs suggested that the profiles of CSF A<em>β</em>₄₂ and phosphorylated tau in PD patients may differ from those in aging patients and those with Alzheimer's disease.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107184"},"PeriodicalIF":3.1,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142530474","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}

{"title":"Taxonomic intestinal microbiota differences in Lewy body spectrum disease and cohabitant controls","authors":"Levi M. Teigen ,&nbsp;Stuart J. McCarter ,&nbsp;Zachary Ziegert ,&nbsp;Christopher Staley ,&nbsp;Kiera M. Grant ,&nbsp;Vinod K. Gupta ,&nbsp;Xiaowei Zhao ,&nbsp;Erik K. St Louis ,&nbsp;Kejal Kantarci ,&nbsp;Val J. Lowe ,&nbsp;Leah K. Forsberg ,&nbsp;Rodolfo Savica ,&nbsp;Vijay K. Ramanan ,&nbsp;David T. Jones ,&nbsp;Ronald C. Petersen ,&nbsp;Jaeyun Sung ,&nbsp;Alexander Khoruts ,&nbsp;Bradley F. Boeve ,&nbsp;Owen A. Ross","doi":"10.1016/j.parkreldis.2024.107176","DOIUrl":"10.1016/j.parkreldis.2024.107176","url":null,"abstract":"<div><h3>Background</h3><div>Microbial dysbiosis has been reported to contribute to development of neurodegenerative diseases, however, there is a need to identify causative/prognostic indicators.</div></div><div><h3>Objectives</h3><div>To comparatively analyze gut microbiome composition in symptomatic LBD (dementia/mild cognitive impairment), iRBD, and cohabiting controls without LBD or iRBD.</div></div><div><h3>Methods</h3><div>16S rRNA amplicon sequencing was performed in 38 cases (27 LBD, 11 iRBD) and 39 cohabitant controls. 19 non-cohabitant healthy controls (HCs) were also included to contrast differences between cohabitant cases and controls.</div></div><div><h3>Results</h3><div>Microbiome composition of cohabitant controls and LBD and iRBD cases were strikingly similar. No differences were observed between LBD, and iRBD only showed reduced <em>Bacteroides</em>, compared with cohabitant controls<em>.</em> There were several taxonomic differences in gut microbiome composition between non-cohabitant HCs and cases.</div></div><div><h3>Conclusions</h3><div>Minimal microbiome differences were observed between iRBD or LBD cases and cohabitant controls. These findings underscore the importance of using cohabiting controls in future gut microbiome studies.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107176"},"PeriodicalIF":3.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472291","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}

{"title":"Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient","authors":"Imen Kacem,&nbsp;Ikram Sghaier,&nbsp;Hanene Ben Rhouma,&nbsp;Antonia Ratti,&nbsp;Nicola Ticozzi,&nbsp;Vincenzo Silani,&nbsp;Neziha Gouider-Khouja,&nbsp;Riadh Gouider","doi":"10.1016/j.parkreldis.2024.107171","DOIUrl":"10.1016/j.parkreldis.2024.107171","url":null,"abstract":"<div><div>Dopa-responsive dystonia (DRD) is an autosomal dominant disease with parkinsonian and dystonic symptoms caused by <em>GCH1</em> gene pathogenic variants affecting dopamine synthesis. The present case report is the first to link DRD with childhood-onset with ALS, suggesting that complex inheritance patterns in the North African population may contribute to multiple disorders.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107171"},"PeriodicalIF":3.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625844","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}

{"title":"The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients","authors":"Shuangjin Ding ,&nbsp;Gang Xie ,&nbsp;Zonglin Han ,&nbsp;Yangming Wang ,&nbsp;Ming Shi ,&nbsp;Feng Zhai ,&nbsp;Tinghong Liu ,&nbsp;Zihang Xie ,&nbsp;Weihua Zhang ,&nbsp;Yun Wu ,&nbsp;Xinying Yang ,&nbsp;Anna Zhou ,&nbsp;Fang Fang ,&nbsp;Shuhong Ren ,&nbsp;Shuli Liang ,&nbsp;Huiqing Cao ,&nbsp;Hui Xiong ,&nbsp;Changhong Ding ,&nbsp;Lifang Dai","doi":"10.1016/j.parkreldis.2024.107172","DOIUrl":"10.1016/j.parkreldis.2024.107172","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the clinical spectrum and pathogenesis associated with <em>KMT2B</em> variants in Chinese children with dystonia or developmental delay.</div></div><div><h3>Methods</h3><div>We reported twenty-seven (fourteen males and thirteen females) pediatric patients with <em>KMT2B</em> variants identified via next-generation sequencing from a single Chinese center. Moreover, transcriptomics and proteomics assays were performed on fibroblasts from patients with different genotypes to investigate the pathogenic mechanisms involved.</div></div><div><h3>Results</h3><div>Twenty-six patients had dystonia including generalized dystonia (<em>n</em> = 19), multifocal dystonia (<em>n</em> = 6), and segmental dystonia (<em>n</em> = 1), and one patient had nondystonic severe-developmental delay (DD). All the twenty-six patients had complex dystonia compounded with other manifestations of movement disorders (tremor (<em>n</em> = 6), myoclonus (n = 5), status dystonicus (<em>n</em> = 2), and tic (<em>n</em> = 1)) or dysmorphic features and developmental delay. The onset of dystonia was between 1 month and 13 years 8 months (median 4 years 4 months). Dystonia was aggravated by fever (<em>n</em> = 11), and diurnal and climate fluctuations (<em>n</em> = 4). Eleven patients underwent deep brain stimulation and experienced significant improvements in motor function and disability. We identified twenty-six intragenic heterozygous <em>KMT2B</em> pathogenic variants and one Chr:19q13.12 contiguous gene deletion. Sixteen variants were novel. Differentially expressed genes induced by <em>KMT2B</em> variants were significantly enriched for mitochondria-related biological processes in patient fibroblasts. As a result, mitochondrial morphology of mitochondria was altered, and aerobic respiration was impaired.</div></div><div><h3>Conclusion</h3><div>Our study reports the pediatric cases of <em>KMT2B</em>-related disorder from a single center in China. Additionally, our study highlights the role of <em>KMT2B</em> variants in mitochondrial dysfunction.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107172"},"PeriodicalIF":3.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142442270","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}

{"title":"A prediction model for the walking and balance milestone in Parkinson's disease","authors":"Jing-Yu Shao ,&nbsp;Meng-Yun Wang ,&nbsp;Rong Li ,&nbsp;Hong-Qi Yang ,&nbsp;Xin-xin He ,&nbsp;Jie-Wen Zhang ,&nbsp;Shuai Chen","doi":"10.1016/j.parkreldis.2024.107175","DOIUrl":"10.1016/j.parkreldis.2024.107175","url":null,"abstract":"<div><h3>Background</h3><div>Walking and balance impairments, represented by freezing of gait and falls, are significant contributors to disability in advanced Parkinson's disease (PD) patients. However, the composite measure of the Walking and Balance Milestone (WBMS) has not been thoroughly investigated.</div></div><div><h3>Methods</h3><div>This study included 606 early-stage PD patients from the Parkinson's Progression Markers Initiative (PPMI) database, with a disease duration of less than 2 years and no WBMS at baseline. Patients were divided into a model development cohort (70 %) and a validation cohort (30 %) according to the enrollment site. Longitudinal follow-up data over a period of 12 years were analyzed.</div></div><div><h3>Results</h3><div>Among all 606 patients, the estimated probability of being WBMS-free at the 5th and 10th year was 88 % and 60 %, respectively. Five clinical variables (Age, Symbol Digit Modalities Test (SDMT), postural instability and gait difficulty (PIGD) score, Movement Disorder Society-Unified Parkinson's Disease Rating Scale Part I (MDS-UPDRS-I) score, and REM Sleep Behavior Disorder (RBD) were used to construct the Cox predictive model. The C-index of the model was 0.75 in the development cohort and 0.76 in the validation cohort. By optimizing the PIGD and MDS-UPDRS-I variables, an easy-to-use model was achieved with comparable predictive performance.</div></div><div><h3>Conclusion</h3><div>A predictive model based on five baseline clinical measures (Age, SDMT, PIGD score, MDS-UPDRS-I score, RBD) could effectively estimate the risk of the WBMS in early PD patients. This model is valuable for prognostic counseling and clinical intervention trials for gait and balance impairment.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107175"},"PeriodicalIF":3.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142442255","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}

{"title":"Boostering motor imagery processing to improve gait in patients with Parkinson disease and freezing of gait: A pilot study","authors":"Susanna Mezzarobba ,&nbsp;Elisa Ravizzotti ,&nbsp;Paolo Bernardis ,&nbsp;Martina Putzolu ,&nbsp;Carola Cosentino ,&nbsp;Alessandro Botta ,&nbsp;Gaia Bonassi ,&nbsp;Roberta Marchese ,&nbsp;Sara Terranova ,&nbsp;Giovanna Lagravinese ,&nbsp;Laura Avanzino ,&nbsp;Elisa Pelosin","doi":"10.1016/j.parkreldis.2024.107173","DOIUrl":"10.1016/j.parkreldis.2024.107173","url":null,"abstract":"<div><h3>Background</h3><div>Given that patients with Parkinson's Disease (PD) and Freezing of Gait (FoG) may lack the cognitive resources necessary to activate the motor imagery (MI) process, investigating how to boost MI vividness and accuracy could be a valuable therapeutic strategy in MI Practice (MIP).</div></div><div><h3>Objective</h3><div>We aim to evaluate the priming effect of visual, or auditory, or attentional stimuli in enhancing MI ability by using quantitative data on gait and turning performance.</div></div><div><h3>Methods</h3><div>Nineteen PD participants with FoG underwent four one-week sessions of MIP, with pre and post clinical assessments. Each session included MI alone or one of three booster MI tasks (Attentional, Action observation, or Auditory) before imagining and executing walking straight and performing a 180° turn. Gait and turning performances were evaluated using six inertial sensors before and after each session.</div></div><div><h3>Results</h3><div>Our findings showed that both MI and boosted MI induced similar improvement in gait (speed and stride length) and 180° (step number and velocity) and 360° turning (velocity, angle) parameters compared to baseline. When differences among “booster” tasks were analyzed, results showed that Auditory and Attentional boosted MI were superior to MI alone in some gait and turning parameters. At the end of the 4 sessions, MI ability measured by means of Kinesthetic and Visual Imagery Questionnaire and Gait Imagery Questionnaire and FoG symptoms were also improved.</div></div><div><h3>Conclusion</h3><div>Our preliminary results suggest that boosting MI is a feasible strategy for enhancing MI ability and addressing FoG symptoms. Auditory and Attentional conditions appear to enhance the priming effect of MI on gait and turning performance more effectively.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107173"},"PeriodicalIF":3.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472290","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}

{"title":"Early onset Parkinson's disease: Taking a closer look.","authors":"Norlinah Mohamed Ibrahim, Pramod Kumar Pal","doi":"10.1016/j.parkreldis.2024.107164","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107164","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107164"},"PeriodicalIF":3.1,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472288","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}

{"title":"Letter to the editor: Cognitive and morphometric features of mild cognitive impairment reversion in early patients with Parkinson's disease.","authors":"Kazuya Kawabata, Werner Poewe","doi":"10.1016/j.parkreldis.2024.107163","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107163","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107163"},"PeriodicalIF":3.1,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472289","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}