Parkinsonism & related disorders最新文献

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Association of patient characteristics, social drivers of health, and geographic location on access to device-aided therapies among medicare beneficiaries with advanced Parkinson's disease
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-06 DOI: 10.1016/j.parkreldis.2025.107322
Joohi Jimenez-Shahed , Irene A. Malaty , Michael Soileau , Connie H. Yan , Lakshmi Kandukuri , Jill Schinkel , Christie Teigland , Megha B. Shah , Pavnit Kukreja , Aaron Hambrick , Hubert H. Fernandez
{"title":"Association of patient characteristics, social drivers of health, and geographic location on access to device-aided therapies among medicare beneficiaries with advanced Parkinson's disease","authors":"Joohi Jimenez-Shahed ,&nbsp;Irene A. Malaty ,&nbsp;Michael Soileau ,&nbsp;Connie H. Yan ,&nbsp;Lakshmi Kandukuri ,&nbsp;Jill Schinkel ,&nbsp;Christie Teigland ,&nbsp;Megha B. Shah ,&nbsp;Pavnit Kukreja ,&nbsp;Aaron Hambrick ,&nbsp;Hubert H. Fernandez","doi":"10.1016/j.parkreldis.2025.107322","DOIUrl":"10.1016/j.parkreldis.2025.107322","url":null,"abstract":"<div><h3>Introduction</h3><div>Surgical device-aided therapies (DATs), including carbidopa-levodopa enteral suspension (CLES) and deep brain stimulation (DBS), are efficacious treatment options for people with advanced Parkinson's disease (aPD). While provider and patient preference influence treatment choices, DAT use remains low and social drivers of health (SDOH) may present barriers to access. This study aimed to evaluate the relationship of patient characteristics and SDOH—including geographic distance to facilities that provide DATs—with likelihood of receiving DAT.</div></div><div><h3>Methods</h3><div>Adults diagnosed with PD and meeting aPD clinical indicators were identified among 100 % Medicare Fee-for-Service beneficiaries linked to Inovalon's SDOH data warehouse between 01/01/2018-12/31/2020. Multivariate logistic regression models determined factors associated with DAT vs no-DAT initiation.</div></div><div><h3>Results</h3><div>Of 503,245 Medicare beneficiaries with PD, 22 % met proxy criteria for aPD, with 2 % (2450) receiving DAT (CLES 24 %; DBS 76 %). Nationwide aPD prevalence was 309 per 100,000 Medicare beneficiaries. There were 413 DAT facilities nationwide (average 8 facilities/state), and aPD patients traveled 98 miles on average to a facility (range 11–255 miles). aPD patients under age 75 were 2-3x more likely to receive DAT, while those identifying as female, Black race, have moderate to severe comorbidity, and lower household incomes were less likely to receive DAT.</div></div><div><h3>Conclusions</h3><div>Findings suggest low utilization of DATs among US Medicare beneficiaries with aPD. Even states with more DAT facilities often require patients to travel long distances. Identifying and minimizing access disparities, particularly for women, racial minorities, and people with low socioeconomic status may improve DAT utilization and outcomes for patients with aPD.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107322"},"PeriodicalIF":3.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421376","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
Aggregated α-synuclein in erythrocytes as a potential biomarker for idiopathic Parkinson's Disease
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-06 DOI: 10.1016/j.parkreldis.2025.107321
Konstantina Dimoula , Nikolaos Papagiannakis , Matina Maniati , Leonidas Stefanis , Evangelia Emmanouilidou
{"title":"Aggregated α-synuclein in erythrocytes as a potential biomarker for idiopathic Parkinson's Disease","authors":"Konstantina Dimoula ,&nbsp;Nikolaos Papagiannakis ,&nbsp;Matina Maniati ,&nbsp;Leonidas Stefanis ,&nbsp;Evangelia Emmanouilidou","doi":"10.1016/j.parkreldis.2025.107321","DOIUrl":"10.1016/j.parkreldis.2025.107321","url":null,"abstract":"<div><h3>Background</h3><div>Mostly known for its implication in synucleinopathies, including Parkinson's disease (PD), α-synuclein is predominantly expressed in the nervous system. Most of the peripheral α-synuclein is found in erythrocytes, and several studies have examined a possible association between erythrocytic α-synuclein and PD.</div></div><div><h3>Methods</h3><div>We have used a recently developed ELISA that selectively detects fibrillar and oligomeric α-synuclein to measure aggregated α-synuclein in red blood cells (RBCs) collected from PD patients and age/sex-matched control individuals (n = 35). The PD group included patients without any common mutation (genetically undetermined group, GU-PD, n = 56) as well as mutation carriers in the α-synuclein gene (A53T-PD, n = 28) and glucocerebrosidase gene (GBA-PD, n = 24).</div></div><div><h3>Results</h3><div>We found that the concentration of aggregated α-synuclein in erythrocytes was significantly increased in GU-PD patients compared to controls. A53T-PD and GBA-PD patients exhibited similar levels of erythrocytic aggregated α-synuclein as the control group. The levels of fibrillar/oligomeric α-synuclein in RBCs were reduced in respect to the age of control individuals suggesting that the observed increase in the GU-PD cohort was not due to normal aging. Parallel assessment of monomeric α-synuclein revealed that aggregated, but not total, α-synuclein could discriminate PD patients from control individuals.</div></div><div><h3>Conclusions</h3><div>The elevation of aggregated α-synuclein in GU-PD erythrocytes, which is not related to aging, suggests that these forms may be indicative of PD pathology and possibly accumulate upon disease establishment. As such, aggregated α-synuclein in RBCs could be a potential biomarker for PD diagnosis.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107321"},"PeriodicalIF":3.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387901","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
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-05 DOI: 10.1016/j.parkreldis.2025.107319
Antonia M. Stehr , Jan Fischer , Nazanin Mirza-Schreiber , Katerina Bernardi , Joseph Porrmann , Philip Harrer , Frank Kaiser , Rami Abou Jamra , Juliane Winkelmann , Robert Jech , Anne Koy , Konrad Oexle , Michael Zech
{"title":"Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders","authors":"Antonia M. Stehr ,&nbsp;Jan Fischer ,&nbsp;Nazanin Mirza-Schreiber ,&nbsp;Katerina Bernardi ,&nbsp;Joseph Porrmann ,&nbsp;Philip Harrer ,&nbsp;Frank Kaiser ,&nbsp;Rami Abou Jamra ,&nbsp;Juliane Winkelmann ,&nbsp;Robert Jech ,&nbsp;Anne Koy ,&nbsp;Konrad Oexle ,&nbsp;Michael Zech","doi":"10.1016/j.parkreldis.2025.107319","DOIUrl":"10.1016/j.parkreldis.2025.107319","url":null,"abstract":"<div><h3>Introduction</h3><div>Variable expressivity is an emerging characteristic of <em>KMT2B</em>-related dystonia. However, it remains poorly understood whether variants reoccurring at specific sites of lysine-specific methlytransferase-2B (KMT2B) can drive intra- and interfamilial clinical heterogeneity. Our goal was to ascertain independent families with variants affecting residue Arg2565 of KMT2B.</div></div><div><h3>Methods</h3><div>Whole-exome/genome sequencing, multi-site recruitment, genotype-phenotype correlations, and DNA methylation episignature analysis were performed.</div></div><div><h3>Results</h3><div>We report four individuals from two families harboring the variant c.7693C &gt; G, p.Arg2565Gly. In an additional patient, a <em>de-novo</em> c.7693C &gt; T, p.Arg2565Cys variant was identified. The observed phenotypic spectrum ranged from childhood-onset dystonia (N = 2) over unspecific intellectual disability syndromes (N = 2) to undiagnosed behavioral symptoms in adulthood (N = 1). Samples bearing p.Arg2565Gly had a <em>KMT2B</em>-typical episignature, although the effect on methylation was less pronounced than in carriers of loss-of-function <em>KMT2B</em> variants.</div></div><div><h3>Conclusions</h3><div>We established the existence of a KMT2B missense-mutation hotspot associated with varying degrees of disease severity and expression, providing information for patient counseling and elucidation of pathomechanisms.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107319"},"PeriodicalIF":3.1,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143376627","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
Non-pharmacological rehabilitation for people living with advanced Parkinson's disease: A scoping review of interventions.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-04 DOI: 10.1016/j.parkreldis.2025.107317
Johanne Andersen Elbek, Birgitte Nørgaard, Tina Pedersen, Jette Thuesen
{"title":"Non-pharmacological rehabilitation for people living with advanced Parkinson's disease: A scoping review of interventions.","authors":"Johanne Andersen Elbek, Birgitte Nørgaard, Tina Pedersen, Jette Thuesen","doi":"10.1016/j.parkreldis.2025.107317","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107317","url":null,"abstract":"<p><strong>Background: </strong>Rehabilitation becomes increasingly important in the more advanced stages of Parkinson's Disease. As the disease reaches its more debilitating stages and pharmacological or surgical treatment becomes less relevant, non-pharmacological interventions including rehabilitation become key. Existing systematic interventions typically focus on individuals in the early to mid-stages of the disease. The objective of this scoping review was to identify and map the available evidence on non-pharmacological rehabilitation interventions for people living with advanced Parkinson's disease.</p><p><strong>Methods: </strong>This scoping review was conducted following the methodology for scoping reviews developed by the Joanna Briggs Institute. A systematic search was conducted in PubMed, EMBASE, CINAHL, and Cochrane. Studies published in English from 2000 to May 2024 were considered eligible and screened for relevance.</p><p><strong>Results: </strong>Thirteen studies were included. The majority of the interventions were experimental; one had a focus on feasibility and one had a mixed focus on effect and feasibility. Most interventions were referred to as either rehabilitation, training, or therapy, with the two feasibility interventions focusing on comprehensive assessment and referrals. The majority used modalities concerned with levels of functioning. Studies focusing on stage 4 (H&Y) Parkinson's disease were prominent.</p><p><strong>Conclusions: </strong>This scoping review provides a foundational overview of existing non-pharmacological rehabilitation interventions for advanced Parkinson's disease, revealing a small yet diverse range of approaches, from single-disciplinary to multidisciplinary interventions. It offers initial insights that can point to areas where further research can solidify and expand effective, targeted care strategies for people living with advanced Parkinson's disease.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107317"},"PeriodicalIF":3.1,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374370","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
Machine Learning-based World Health Organization Disability Assessment Schedule for persons with Parkinson's disease
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-04 DOI: 10.1016/j.parkreldis.2025.107316
Meng-Lin Lee , Gong-Hong Lin , Yi-Ching Wang , Shih-Chieh Lee , Ching-Lin Hsieh
{"title":"Machine Learning-based World Health Organization Disability Assessment Schedule for persons with Parkinson's disease","authors":"Meng-Lin Lee ,&nbsp;Gong-Hong Lin ,&nbsp;Yi-Ching Wang ,&nbsp;Shih-Chieh Lee ,&nbsp;Ching-Lin Hsieh","doi":"10.1016/j.parkreldis.2025.107316","DOIUrl":"10.1016/j.parkreldis.2025.107316","url":null,"abstract":"<div><h3>Introduction</h3><div>The World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) is a well-known measure to assess disability in persons with Parkinson's disease (PD). The purpose of this study was to develop a short form of the WHODAS 2.0 for persons with PD using a machine learning-based methodology (ML-WHODAS) and to examine the efficiency (i.e., number of items needed to be administered) and validity of the ML-WHODAS.</div></div><div><h3>Methods</h3><div>A secondary data analysis was performed. Data were randomly assigned to training datasets (80 %) and validation datasets (20 %). For developing the ML-WHODAS, the eXtreme Gradient Boosting (XGBoost) regressor was used to select the most informative items from the training datasets, and then the final XGBoost model was generated. The efficiency, concurrent validity, and convergent validity of the ML-WHODAS were then examined using the validation dataset.</div></div><div><h3>Results</h3><div>Data from 1633 patients were randomly assigned into the training dataset (1306) and the validation dataset (327). Eighteen items were selected for the ML-WHODAS to reproduce 6 domain scores and one global score of the original WHODAS 2.0. In the validation dataset, the Pearson's coefficients r between the scores of the ML-WHODAS and WHODAS 2.0 were 0.97–0.99, indicating very high concurrent validity. Significant correlations were found regarding convergent validity of the domain and global scores.</div></div><div><h3>Conclusions</h3><div>The ML-WHODAS showed good efficiency and validity compared to the WHODAS 2.0 in persons with PD. The ML-WHODAS demonstrates its potential as an alternative to the WHODAS 2.0, though further validations (e.g., test-retest reliability and responsiveness) are warranted.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107316"},"PeriodicalIF":3.1,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143376622","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
Big data and transformative bioinformatics in genomic diagnostics and beyond.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-03 DOI: 10.1016/j.parkreldis.2025.107311
Alice Saparov, Michael Zech
{"title":"Big data and transformative bioinformatics in genomic diagnostics and beyond.","authors":"Alice Saparov, Michael Zech","doi":"10.1016/j.parkreldis.2025.107311","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107311","url":null,"abstract":"<p><p>The current era of high-throughput analysis-driven research offers invaluable insights into disease etiologies, accurate diagnostics, pathogenesis, and personalized therapy. In the field of movement disorders, investigators are facing an increasing growth in the volume of produced patient-derived datasets, providing substantial opportunities for precision medicine approaches based on extensive information accessibility and advanced annotation practices. Integrating data from multiple sources, including phenomics, genomics, and multi-omics, is crucial for comprehensively understanding different types of movement disorders. Here, we explore formats and analytics of big data generated for patients with movement disorders, including strategies to meaningfully share the data for optimized patient benefit. We review computational methods that are essential to accelerate the process of evaluating the increasing amounts of specialized data collected. Based on concrete examples, we highlight how bioinformatic approaches facilitate the translation of multidimensional biological information into clinically relevant knowledge. Moreover, we outline the feasibility of computer-aided therapeutic target evaluation, and we discuss the importance of expanding the focus of big data research to understudied phenotypes such as dystonia.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107311"},"PeriodicalIF":3.1,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383025","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
Beyond the cerebello-thalamo-cortical tract: Remote structural changes after VIM-MRgFUS in essential tremor
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-03 DOI: 10.1016/j.parkreldis.2025.107318
Jonas Krauss , Neeraj Upadhyay , Veronika Purrer , Valeri Borger , Marcel Daamen , Angelika Maurer , Carsten Schmeel , Alexander Radbruch , Ullrich Wüllner , Henning Boecker
{"title":"Beyond the cerebello-thalamo-cortical tract: Remote structural changes after VIM-MRgFUS in essential tremor","authors":"Jonas Krauss ,&nbsp;Neeraj Upadhyay ,&nbsp;Veronika Purrer ,&nbsp;Valeri Borger ,&nbsp;Marcel Daamen ,&nbsp;Angelika Maurer ,&nbsp;Carsten Schmeel ,&nbsp;Alexander Radbruch ,&nbsp;Ullrich Wüllner ,&nbsp;Henning Boecker","doi":"10.1016/j.parkreldis.2025.107318","DOIUrl":"10.1016/j.parkreldis.2025.107318","url":null,"abstract":"<div><h3>Introduction</h3><div>Essential tremor (ET) is a progressive disorder characterized by altered network connectivity between the cerebellum, thalamus, and cortical regions. Magnetic Resonance-guided Focused Ultrasound (MRgFUS) of the ventral intermediate nucleus (VIM) is an effective, minimally invasive treatment for ET. The impact of MRgFUS interventions on regional Gray Matter Volume (GMV) are as yet not well understood.</div></div><div><h3>Methods</h3><div>Forty-six patients with medication-resistant ET underwent unilateral VIM-MRgFUS. Voxel-based morphometry was applied to investigate GMV changes over a time span of 6 months in the whole brain and the thalamus in particular to investigate local and distant effects.</div></div><div><h3>Results</h3><div>Clinically, contralateral tremor significantly decreased by 68 % at 6 months following MRgFUS. In addition to local GMV decreases in thalamic nuclei (VIM, ventral lateral posterior, centromedian thalamus and pulvinar), VBM revealed remote GMV decreases in the ipsilesional insula and the anterior cingulate cortex as well as the contralesional middle occipital gyrus. Increased GMV was found in the right superior and middle temporal gyrus, as well as in the left inferior temporal gyrus. There was no significant correlation between regional GMV declines and tremor improvement. However, temporal volume increases were associated with improved motor-related functional abilities and quality of life outcomes.</div></div><div><h3>Conclusion</h3><div>Our findings implicate distributed structural changes following unilateral VIM-MRgFUS. Structural losses could reflect Wallerian degeneration of VIM output neurons or plasticity due to decreased sensory input following tremor improvement.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"132 ","pages":"Article 107318"},"PeriodicalIF":3.1,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364663","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
Duration of “Good On” time per dose: Immediate-release carbidopa-levodopa vs. extended-release carbidopa-levodopa (IPX203, CREXONT®) 每次给药的“有效”时间:卡比多巴-左旋多巴速释与卡比多巴-左旋多巴缓释(IPX203, CREXONT®)
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107239
R.A. Hauser , H.H. Fernandez , J. Jimenez-Shahed , S. Allard , G. Banisadr , S. Fisher , R. D'Souza
{"title":"Duration of “Good On” time per dose: Immediate-release carbidopa-levodopa vs. extended-release carbidopa-levodopa (IPX203, CREXONT®)","authors":"R.A. Hauser ,&nbsp;H.H. Fernandez ,&nbsp;J. Jimenez-Shahed ,&nbsp;S. Allard ,&nbsp;G. Banisadr ,&nbsp;S. Fisher ,&nbsp;R. D'Souza","doi":"10.1016/j.parkreldis.2024.107239","DOIUrl":"10.1016/j.parkreldis.2024.107239","url":null,"abstract":"<div><h3>Background</h3><div>For Parkinson's disease patients with motor fluctuations, the duration of benefit per levodopa dose is a key metric that reflects a patient's clinical response.</div></div><div><h3>Objective</h3><div>Determine the difference in mean durations of “Good On” time per dose of subjects randomized to extended-release carbidopa-levodopa (ER CD-LD; IPX203; CREXONT®) vs. immediate-release (IR) CD-LD in the RISE-PD trial.</div></div><div><h3>Methods</h3><div>“Good On” time per dose was assessed at the end of the IR CD-LD dose adjustment phase (Visit 2/Week 3) and compared to End of Study (Visit 7/EOS) between IPX203 and IR CD-LD groups. In addition, to understand if “Good On” time per dose for IR CD-LD before conversion to IPX203 could impact the magnitude of change in “Good On” time per dose of IPX203 vs. IR CD-LD after conversion, subjects were rank-ordered and divided into quartiles based on their initial “Good On” time per dose optimized IR CD-LD values. Changes in “Good On” time per dose between IPX203 and IR CD-LD groups were then compared for each quartile from Visit 2 to EOS.</div></div><div><h3>Results</h3><div>IPX203 increased “Good On” time per dose compared to IR CD-LD by a mean of 1.6 h (p &lt; 0.0001). The mean differences in “Good On” time per dose between IPX203 and IR CD-LD were 1.53h for quartile one, 1.39h for quartile two, 1.83h for quartile three, and 1.56h for quartile four (p &lt; 0.0001 for all quartiles).</div></div><div><h3>Conclusion</h3><div>IPX203 significantly increased “Good On” time per dose regardless of the duration of “Good On” time per dose observed with IR CD-LD.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"131 ","pages":"Article 107239"},"PeriodicalIF":3.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903159","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
A rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients 在三名奥地利帕金森患者中发现了罕见的UQCRC1基因变异p.(Gly405Val)。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107250
Christof Brücke , Thomas Brücke , Walter Pirker , Alexander Zimprich
{"title":"A rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients","authors":"Christof Brücke ,&nbsp;Thomas Brücke ,&nbsp;Walter Pirker ,&nbsp;Alexander Zimprich","doi":"10.1016/j.parkreldis.2024.107250","DOIUrl":"10.1016/j.parkreldis.2024.107250","url":null,"abstract":"<div><h3>Background</h3><div>Variants in the <em>UQCRC1</em> gene have been proposed to cause autosomal dominant Parkinson's disease with neuropathy. However, definitive confirmation of <em>UQCRC1</em> as an authentic Parkinson's gene remains elusive, as follow-up studies have not yet provided conclusive evidence.</div></div><div><h3>Methods</h3><div>382 Austrian Parkinson's patients, particularly selected for familial and/or early onset cases, were Exome sequenced.</div></div><div><h3>Results</h3><div>We found three unrelated patients with a positive family history of the disease who shared the same rare missense variant in the <em>UQCRC1</em> gene: c.1214G &gt; T; p.(Gly405Val). The variant is very rare in the control population, with an allele frequency of 2 × 10<sup>−6</sup> in the gnomAD database. None of the three patients carries a rare variant in a monogenic Parkinson's disease gene.</div></div><div><h3>Conclusion</h3><div>We suggest that <em>UQCRC1</em> p.(Gly405Val) probably contributes to the development of the disease in these three patients. Our findings provide further evidence that <em>UQCRC1</em> is a ‘bona fide’ Parkinson's disease gene.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"131 ","pages":"Article 107250"},"PeriodicalIF":3.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927742","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
Commentary on “The use of hypoglycemic drugs in Parkinson's disease: An updated meta-analysis of randomized controlled trials” 对“帕金森病降糖药物的使用:随机对照试验的最新荟萃分析”的评论。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-01 DOI: 10.1016/j.parkreldis.2024.107247
Shubham Kumar , Ahmad Neyazi , Rachana Mehta , Ranjana Sah
{"title":"Commentary on “The use of hypoglycemic drugs in Parkinson's disease: An updated meta-analysis of randomized controlled trials”","authors":"Shubham Kumar ,&nbsp;Ahmad Neyazi ,&nbsp;Rachana Mehta ,&nbsp;Ranjana Sah","doi":"10.1016/j.parkreldis.2024.107247","DOIUrl":"10.1016/j.parkreldis.2024.107247","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"131 ","pages":"Article 107247"},"PeriodicalIF":3.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896674","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
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