Parkinsonism & related disorders最新文献

{"title":"Critical evaluation of the current landscape of pharmacogenomics in Parkinson's disease - What is missing? A systematic review.","authors":"Henry Mauricio Chaparro-Solano, Maria Rivera Paz, Saar Anis, Jennifer K Hockings, Avery Kundrick, Camila C Piccinin, Ekhlas Assaedi, Leila Saadatpour, Ignacio F Mata","doi":"10.1016/j.parkreldis.2024.107206","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107206","url":null,"abstract":"<p><strong>Introduction: </strong>The first-line treatment for Parkinson's disease (PD) involves dopamine-replacement therapies; however, significant variability exists in patient responses. Pharmacogenomics has been explored as a potential approach to understanding and predicting treatment outcomes. This review aims to evaluate the current state of knowledge regarding the role of pharmacogenomics in PD, focusing on identifying challenges and proposing future directions.</p><p><strong>Methods: </strong>We conducted a systematic review following PRISMA 2020 guidelines. The PubMed database was searched for original, English-language studies using the R package 'RISmed.' Data were extracted and analyzed based on sample size, population origin, evaluated genes and polymorphisms, outcomes, and methodological approaches.</p><p><strong>Results: </strong>Out of 183 identified articles, 76 met the inclusion criteria. The COMT-rs4680 polymorphism was the most frequently studied, and levodopa-related motor complications were the most commonly assessed outcomes. All but two studies employed a candidate gene approach. In 75 % of the studies, the sample size was fewer than 225 individuals. There was a notable underrepresentation of Latino participants, with a lack of studies from Latin American countries other than Brazil. None of the studies produced consistent results across investigations.</p><p><strong>Conclusions: </strong>The variability in patient responses to PD treatments suggests a genetic predisposition. While current research has enhanced our understanding of PD medication metabolism, it has not yet fully elucidated the complex genetic interactions involved in PD pharmacogenomics. Novel approaches, larger and more genetically diverse cohorts, and improved data collection are essential for advancing pharmacogenomics in PD clinical practice.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107206"},"PeriodicalIF":3.1,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648881","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: Risk factors and evolution of weight loss in Parkinson's disease: A 9-year population-based study","authors":"Mingsheng Huang","doi":"10.1016/j.parkreldis.2024.107205","DOIUrl":"10.1016/j.parkreldis.2024.107205","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107205"},"PeriodicalIF":3.1,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639416","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":"Home-based online line bisection test detects visuo-spatial neglect and pseudoneglect in Parkinson's disease","authors":"Louis Albert ,&nbsp;Fosco Bernasconi ,&nbsp;Jevita Potheegadoo ,&nbsp;Olaf Blanke","doi":"10.1016/j.parkreldis.2024.107195","DOIUrl":"10.1016/j.parkreldis.2024.107195","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson's Disease (PD) may lead to cognitive symptoms, including visuo-spatial attentional deficits such as unilateral spatial neglect (USN). Although there is some evidence for USN in PD patients, especially in those with left-sided onset of motor-symptoms (LPD), previous studies revealed inconsistent and highly variable results in neglect tasks using line bisection and have not systematically compared LPD with RPD (PD patients with right-sided onset) or healthy controls (HC).</div></div><div><h3>Methods</h3><div>We designed a fully automatized online web-based line bisection task and tested a group of 170 PD patients (81 RPD, 66 LPD) and 45 HC.</div></div><div><h3>Results</h3><div>Our data reveals (1) a rightward bias on line bisection in LPD compared to HC and RPD, (2) right-sided pseudoneglect in HC as well as RPD. Our data also reveals that (3) PD patients, independent of the primarily affected side, are more variable in their line bisections.</div></div><div><h3>Conclusion</h3><div>These data provide robust evidence for systematic changes in visuo-spatial perception in PD and present a new online diagnosis and monitoring tool for USN to evaluate patients at their home.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107195"},"PeriodicalIF":3.1,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625848","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 impact of anti-inflammatory therapy on Parkinson's disease incidence: A retrospective cohort study","authors":"Michele Potashman ,&nbsp;Jennifer S. Haas ,&nbsp;Ambrish Pandit ,&nbsp;Dana Stafkey ,&nbsp;Vlad Coric ,&nbsp;Wolfgang Singer ,&nbsp;Gil L'Italien","doi":"10.1016/j.parkreldis.2024.107194","DOIUrl":"10.1016/j.parkreldis.2024.107194","url":null,"abstract":"<div><h3>Background</h3><div>Previous research suggests shared pathophysiology between Parkinson's Disease (PD) and autoimmune disorders, with inflammation reduction as a potential PD intervention. The impact of anti-tumor necrosis factor (anti-TNF) and anti-interleukin (IL)-17 drugs on PD development has yielded conflicting results.</div></div><div><h3>Objectives</h3><div>The study investigated the association between PD incidence and immunosuppressive anti-inflammatory drugs in patients with autoimmune diseases (rheumatoid arthritis, ulcerative colitis, Crohn's disease, ankylosing spondylitis, psoriasis/psoriatic arthritis).</div></div><div><h3>Methods</h3><div>A retrospective study was conducted using data from 2014 to 2022 from the US Komodo Health claims database. Two cohorts of patients diagnosed with autoimmune diseases were designed: 1) exposed to biologic disease-modifying antirheumatic drugs (bDMARDS e.g., anti-TNF/anti-IL-17 drugs) and 2) absent such exposure. Person-time incidence rates of PD per 100 person-years (PY) and incidence rate ratios (IRRs) were calculated and covariate adjusted via Poisson regressions.</div></div><div><h3>Results</h3><div>Among 2,105,677 identified patients with autoimmune disease, 114,082 were treated with anti-TNF/anti-IL-17 and 1,991,595 were not. Unadjusted analyses indicated lower PD incidence in those treated with bDMARDscompared to the not treated (0.661 vs 0.949 per 100-PY; IRR 0.696 [95 % CI: 0.669–0.724]). Multivariate Poisson models comparing cohorts exposed to bDMARDs vs those lacking exposure resulted in significantly lower risk of PD (adjusted IRR 0.77 [95 % CI 0.74–0.80], p-value &lt;0.0001). For patients exposed to anti-TNF or anti-IL-17 therapies, the IRRs were 0.77 (95 % CI 0.74–0.81) and 0.64 (95 % CI 0.52–0.80), respectively (p-values&lt;0.001).</div></div><div><h3>Conclusions</h3><div>The results suggest that reduced systemic inflammation via anti-TNF or anti-IL-17 treatment may decrease PD risk in patients with autoimmune diseases.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107194"},"PeriodicalIF":3.1,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625868","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":"Regional gray matter volumes are not predictive of axial symptom response to subthalamic deep brain stimulation in Parkinsonian patients","authors":"Annika Peter ,&nbsp;Marvin Petersen ,&nbsp;Pawel Wrobel ,&nbsp;Frederik Schott ,&nbsp;Alessandro Gulberti ,&nbsp;Tim Magnus ,&nbsp;Goetz Thomalla ,&nbsp;Bastian Cheng ,&nbsp;Monika Pötter-Nerger","doi":"10.1016/j.parkreldis.2024.107193","DOIUrl":"10.1016/j.parkreldis.2024.107193","url":null,"abstract":"<div><h3>Introduction</h3><div>In Parkinson's disease (PD), axial symptom response to deep brain stimulation of the subthalamic nucleus (STN-DBS) is heterogeneous. This single-center, retrospective study aimed to assess imaging biomarkers of routine magnetic resonance imaging (MRI) to predict axial symptom response to STN-DBS, specifically by using an index of volumes of mesencephalon, pons, middle, and superior peduncle (“MR PIGD index”).</div></div><div><h3>Methods</h3><div>We investigated 94 PD patients pre- and three to six months postoperatively by using MDS-UPDRS III, Berg Balance Scale, Freezing of Gait Questionnaire (FOG-Q) and Ziegler Course, which were related to regional brain volumetry information using regression analysis and partial least squares correlation analysis.</div></div><div><h3>Results</h3><div>STN-DBS led to significant, but heterogeneous improvement of axial PD symptoms. Neither the MR PIGD index nor other cortical brain volumes predicted the extent of the postoperative, axial symptom improvement.</div></div><div><h3>Conclusions</h3><div>Response to STN-DBS in PD cannot be predicted by MRI regional gray matter volumes.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107193"},"PeriodicalIF":3.1,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639430","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":"Clinical progression of Parkinson's disease in the early 21st century: Insights from the accelerating medicine partnership (AMP-PD) data","authors":"Mechelle M. Lewis ,&nbsp;Richard B. Mailman ,&nbsp;Xinyi Vivian Cheng ,&nbsp;Guangwei Du ,&nbsp;Lijun Zhang ,&nbsp;Changcheng Li ,&nbsp;Sol De Jesus ,&nbsp;Samer D. Tabbal ,&nbsp;Runze Li ,&nbsp;Xuemei Huang","doi":"10.1016/j.parkreldis.2024.107186","DOIUrl":"10.1016/j.parkreldis.2024.107186","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) therapeutic strategies have evolved since levodopa introduction in mid 1900s. To understand their impact and research gaps, this study delineated the clinical progression of PD in recent years.</div></div><div><h3>Methods</h3><div>Using Accelerating Medicine Partnership-PD (AMP-PD) data harmonized from seven biomarker discovery studies (2010–2020), we extracted: overall [Schwab and England (S&amp;E), PD Questionnaire (PDQ-39)]; motor [Movement Disorders Society Unified PD Rating Scale (MDS-UPDRS)-II and -III and Hoehn &amp; Yahr (HY)]; and non-motor [MDS-UPDRS-I, University of Pennsylvania Smell Identification Test (UPSIT), Montreal Cognitive Assessment (MoCA), and Epworth Sleepiness Scale (ESS)] scores. Age at diagnosis was set as 0 years, and data were tracked for 15 subsequent years.</div></div><div><h3>Results</h3><div>Among 3001 PD cases identified to be suitable for this study, 2838 are white, 1843 are males, with a mean age at diagnosis was 60.2 ± 10.3 years. At baseline evaluation, the disease duration was 9.9 ± 6.0 years overall, 1915 within 0–5, 541 with 6–10, 254 within 11–15, and 163 greater than 15 years. Participants largely reported independence (S&amp;E, 5y: 86.6 ± 12.3; 10y: 78.9 ± 19.3; 15y: 78.5 ± 17.0) and good quality of life (PDQ-39, 5y: 15.5 ± 12.3; 10y: 22.1 ± 15.8; 15y: 24.3 ± 14.4). Motor scores displayed a linear progression, whereas non-motor scores plateaued ∼10–15 years. Younger onset age and female correlated with slower progression.</div></div><div><h3>Conclusions</h3><div>Twenty-first century PD patients remain largely independent in the first decade of disease at tertiary subspecialty care and research centers. There are data gaps for those who are non-whites or longer PD duration, and sensible metrics that can gauge non-motor progression when PD is beyond 10 years.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107186"},"PeriodicalIF":3.1,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625845","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":"No trend to rising rates: A review of Parkinson's prevalence studies in the United Kingdom","authors":"","doi":"10.1016/j.parkreldis.2024.107015","DOIUrl":"10.1016/j.parkreldis.2024.107015","url":null,"abstract":"<div><h3>Background</h3><div>Of the neurodegenerative diseases, Parkinson's disease is recognised to have the fastest growing prevalence. It is unclear whether this is due to the ageing global population alone, with several environmental factors increasingly implicated in changing prevalence rates. Large data sets have been used nationally and globally to help predict future disease burden. However, the reliability of such sources is yet unknown for Parkinson's disease.</div></div><div><h3>Summary</h3><div>This review discusses the methods used in all published UK prevalence studies conducted to date. Direct comparison between prevalence figures obtained from the 10 to discussed prevalence studies is precluded due to differences in methodology for case ascertainment and diagnosis. Age adjusted estimates vary from 105/100,000 to 168/100,000.</div></div><div><h3>Key messages</h3><div>These studies demonstrate no overall trend in changing prevalence figures between 1961 and 2007. No difference in prevalence trends were seen for those living in rural or urban areas. Differences between ethnic groups, for example, remains an under explored area.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"128 ","pages":"Article 107015"},"PeriodicalIF":3.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141139931","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":"Postmortem evaluation of the striatum in an NTCELL trial participant five years after transplantation","authors":"Thulani H. Palpagama ,&nbsp;Clinton P. Turner ,&nbsp;Victoria F. Low ,&nbsp;Richard LM. Faull ,&nbsp;Maurice A. Curtis ,&nbsp;Barry Snow","doi":"10.1016/j.parkreldis.2024.107192","DOIUrl":"10.1016/j.parkreldis.2024.107192","url":null,"abstract":"<div><div>In 2017 a novel growth factor administration therapy (termed NTCELL®) was trialled for safety and efficacy for Parkinson's disease treatment. NTCELL® administration is the transplantation of encapsulated porcine choroid plexus cells into the putamen. A clinical study demonstrated safety but failed to meet its primary clinical end-point. Here we describe the clinical and neuropathological characteristics of a case who died five years after receiving NTCELL® treatment. Using histochemical and immunohistochemical labelling, we demonstrate that the NTCELL® capsules remain in the striatum but are mainly devoid of cellular contents. A similar pattern of astrogliosis and microgliosis surrounds the capsule placement area to those surrounding the needle track for implanting the capsules. This study is important as it is the first exploration of the long-term clinical and anatomical outcomes of the NTCELL® clinical trial. The results of this study will help inform future studies aimed at regenerating neurons through the implantation of capsules.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107192"},"PeriodicalIF":3.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625852","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":"Essential tremor as a prodromal feature of Parkinson's disease","authors":"Abdullah Yasir Yilmaz,&nbsp;Joseph Jankovic","doi":"10.1016/j.parkreldis.2024.107128","DOIUrl":"10.1016/j.parkreldis.2024.107128","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"128 ","pages":"Article 107128"},"PeriodicalIF":3.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142293108","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":"Pediatric parkinsonism: In-depth clinical definition and semeiology","authors":"Vincenzo Leuzzi,&nbsp;Maria Novelli,&nbsp;Ivana Paparella,&nbsp;Serena Galosi","doi":"10.1016/j.parkreldis.2024.107148","DOIUrl":"10.1016/j.parkreldis.2024.107148","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"128 ","pages":"Article 107148"},"PeriodicalIF":3.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366199","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}