Parkinsonism & related disorders最新文献

{"title":"GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population","authors":"Kajsa Atterling Brolin ,&nbsp;David Bäckström ,&nbsp;Joel Wallenius ,&nbsp;Ziv Gan-Or ,&nbsp;Andreas Puschmann ,&nbsp;Oskar Hansson ,&nbsp;Maria Swanberg","doi":"10.1016/j.parkreldis.2024.107191","DOIUrl":"10.1016/j.parkreldis.2024.107191","url":null,"abstract":"<div><div>Variants in <em>GBA1</em> are important genetic risk factors in Parkinson's disease (PD). <em>GBA1</em> T369M has been linked to an ∼80 % increased PD risk but the reports are conflicting and the relevance of <em>GBA1</em> variants in different populations varies. A lack of association between T369M and PD in the Swedish population was recently reported but needs further validation. We therefore investigated T369M in 1,808 PD patients and 2,183 controls and our results support that T369M is not a risk factor for PD in the Swedish population.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107191"},"PeriodicalIF":3.1,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605774","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":"Response to: Differences in progressive supranuclear palsy in patients of Asian ancestry? PARKRELDIS-D-24-01057.","authors":"Blas Couto, Maria Carmela Tartaglia, Gabor G Kovacs, Anthony E Lang","doi":"10.1016/j.parkreldis.2024.107179","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107179","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107179"},"PeriodicalIF":3.1,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625843","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":"Development and validation of a machine learning-based diagnostic model for Parkinson's disease in community-dwelling populations: Evidence from the China health and retirement longitudinal study (CHARLS)","authors":"Hongyang Fan ,&nbsp;Sai Li ,&nbsp;Xin Guo ,&nbsp;Min Chen ,&nbsp;Honggao Zhang ,&nbsp;Yingzhu Chen","doi":"10.1016/j.parkreldis.2024.107182","DOIUrl":"10.1016/j.parkreldis.2024.107182","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) is a major neurodegenerative disorder in Middle-aged and elderly people.There is a pressing need for effective predictive models, particularly in chinese population. Objective:This study aims to develop and validate a machine learning-based diagnostic model to identify individuals with PD in community-dwelling populations using data from the China Health and Retirement Longitudinal Study (CHARLS).</div></div><div><h3>Methods</h3><div>We utilized data from 19,134 individuals aged 45 and above from the CHARLS dataset, with 265 adults reported to have PD. The external validation cohort included 1500 individuals, with 21 (1.4 %) having PD.The random forest (RF) algorithm was used to develop an interpretable PD prediction model, which was internally validated using 10-fold cross-validation and externally validated with a dataset from Northern Jiangsu People's Hospital. SHapley Additive exPlanation (SHAP) values were employed to elucidate the model's predictions.</div></div><div><h3>Results</h3><div>The RF model demonstrated robust performance with an Area Under the Curve (AUC) of 0.884 and high sensitivity, specificity, and F1 scores. The model's performance in external validation cohort, highlighting an AUC of 0.82 and an accuracy of 0.99. The model's performance remained consistent across internal and external validation cohorts. SHAP analysis provided insights into the importance and interaction of various predictors, enhancing model interpretability.</div></div><div><h3>Conclusion</h3><div>The study presents a highly accurate and interpretable machine learning-based diagnostic model to identify individuals with PD in middle-aged and older Chinese adults. By combined with predictive risk factors and chronic disease information, the model offers valuable insights for early identification and intervention, potentially mitigating PD progression.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107182"},"PeriodicalIF":3.1,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625846","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":"Spinocerebellar ataxia type 49 presenting with ataxia, early onset dystonia, and bradykinesia in an Indian female patient","authors":"Divyani Garg,&nbsp;Pooja Sharma,&nbsp;Mohammed Faruq,&nbsp;Ayush Agarwal,&nbsp;Ajay Garg,&nbsp;S.B. Punith,&nbsp;S. Sidharth,&nbsp;Achal Kumar Srivastava","doi":"10.1016/j.parkreldis.2024.107188","DOIUrl":"10.1016/j.parkreldis.2024.107188","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107188"},"PeriodicalIF":3.1,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605787","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":"Algorithm for managing infusion site adverse events caused by subcutaneous foslevodopa/foscarbidopa and other device-aided therapies for advanced Parkinson's disease.","authors":"Pedro Mendes-Bastos, Rita Moiron Simoes","doi":"10.1016/j.parkreldis.2024.107185","DOIUrl":"10.1016/j.parkreldis.2024.107185","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107185"},"PeriodicalIF":3.1,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142668574","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":"Anti-NMDAr associated segmental dystonia after COVID19: Case report and literature review","authors":"João Moura ,&nbsp;Joana Lopes ,&nbsp;Cristina Freitas,&nbsp;Raquel Samões,&nbsp;Joana Damásio","doi":"10.1016/j.parkreldis.2024.107187","DOIUrl":"10.1016/j.parkreldis.2024.107187","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107187"},"PeriodicalIF":3.1,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569341","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":"Trajectory of change in body mass index in Parkinson's disease","authors":"Emily J. Henderson ,&nbsp;Anahita Nodehi ,&nbsp;Finn Graham ,&nbsp;Matthew Smith ,&nbsp;Fiona E. Lithander ,&nbsp;Yoav Ben-Shlomo ,&nbsp;Michael Lawton ,&nbsp;Emma Tenison","doi":"10.1016/j.parkreldis.2024.107174","DOIUrl":"10.1016/j.parkreldis.2024.107174","url":null,"abstract":"<div><h3>Introduction</h3><div>Gastrointestinal (GI) symptoms are some of the most common non-motor symptoms in Parkinson's. Weight is a nutritional metric and can be affected by dysfunction of the gastrointestinal (GI) tract. This study aims to explore the change in trajectory of body mass index (BMI) in individuals with Parkinson's over the course of the disease including the prodromal and post-diagnostic periods.</div></div><div><h3>Methods</h3><div>This was a retrospective longitudinal study of data from participants from the PRIME Parkinson UK cross-sectional study. Participants were included if they had had one or more weights and height recorded in the primary care electronic health record.</div></div><div><h3>Results</h3><div>287 patients were initially included but only 234 could be included in the analysis of BMI trajectory. Using a piecewise linear mixed model, we determined that there was a ‘change point’ in BMI trajectory. This occurred on average 3.73 years after diagnosis, when the mean BMI was 26.4 kg/m². Prior to this change point, the estimated mean rate of change in BMI was −0.09 kg/m² (95 % credible interval −0.20,0.00 kg/m²) per year. However, after the change point, we observed a more accelerated decline in BMI, with an estimated mean rate of change of −0.34 kg/m² (95 % credible interval −0.70,-0.07 kg/m²) per year.</div></div><div><h3>Conclusion</h3><div>There was a modest weight loss trajectory in the pre-diagnostic period consistent with clinically stable weight. However, after several years, post-diagnosis BMI loss became more marked. In clinical practice interventions could be targeted at this time point to optimize and maintain nutritional intake.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107174"},"PeriodicalIF":3.1,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625870","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":"Neuroinflammation in Parkinson’s disease: A study with [11C]PBR28 PET and cerebrospinal fluid markers","authors":"H. Al-Abdulrasul ,&nbsp;R. Ajalin ,&nbsp;J. Tuisku ,&nbsp;H. Zetterberg ,&nbsp;K. Blennow ,&nbsp;T. Vahlberg ,&nbsp;L. Ekblad ,&nbsp;S. Helin ,&nbsp;S. Forsback ,&nbsp;J.O. Rinne ,&nbsp;A. Brück","doi":"10.1016/j.parkreldis.2024.107177","DOIUrl":"10.1016/j.parkreldis.2024.107177","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate neuroinflammation in Parkinson's disease (PD) with [¹¹C]PBR28 positron emission tomography (PET) and cerebrospinal fluid (CSF) biomarkers, and the relationship to dopaminergic functioning measured with 6-[¹⁸F]-fluoro-L-dopa ([¹⁸F]FDOPA) PET.</div></div><div><h3>Methods</h3><div>The clinical cohort consisted of 20 subjects with PD and 51 healthy controls (HC). All HC and 15 PD participants underwent [¹¹C]PBR28 High Resolution Research Tomograph (HRRT) PET for the quantitative assessment of cerebral binding to the translocator protein (<em>TSPO</em>), a neuroinflammation marker. CSF samples were available from 17 subjects with PD and 21 HC and were examined for soluble triggering receptor expressed on myeloid cells 2 (sTREM2), chitinase 3-like 1 protein (YKL-40), neurogranin (NG), alpha-synuclein (aSyn) and oligo-alpha-synuclein. All subjects with PD underwent [¹⁸F]FDOPA HRRT PET.</div></div><div><h3>Results</h3><div>While the subjects with PD and HC did not differ in the total volume of distribution (V_T) of [¹¹C]PBR28 in any studied brain regions, higher levels of neuroinflammation and neurodegeneration CSF biomarkers sTREM2 and NG, respectively were associated with more severe motor symptoms evaluated by The Unified Parkinson's Disease Rating Scale motor part (UPDRS-III) (r = 0.52, <em>p</em> = 0.041 and r = 0.59, <em>p</em> = 0.016 respectively). Additionally, in the PD group increased [¹¹C]PBR28 V_T in the basal ganglia and substantia nigra (SN) was related to higher levels of neuroinflammation biomarker YKL-40 (<em>p</em> &lt; 0.01).</div></div><div><h3>Conclusion</h3><div>Associations between <span>CSF</span> biomarkers, motor disability and [¹¹C]PBR28 V_T in the striatum and SN may support a role for neuroinflammation in PD.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"Article 107177"},"PeriodicalIF":3.1,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625849","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":"Response to Letter to the Editor: Causal associations of physical activity and leisure sedentary behaviors with age at onset of Huntington's disease: A Mendelian randomization study.","authors":"Haonan Wang, Yinghong Dai, Yihong Tai, Zeng Zhou, Xin Zhou, Bin Li, Liang Yu","doi":"10.1016/j.parkreldis.2024.107180","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107180","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107180"},"PeriodicalIF":3.1,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564640","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":"Association between sebum secretion and cardiac sympathetic dysfunction in Parkinson's disease","authors":"Tomomichi Kitagawa,&nbsp;Renpei Sengoku,&nbsp;Masakazu Ozawa,&nbsp;Hiromasa Matsuno,&nbsp;Tadashi Umehara,&nbsp;Atsuo Nakahara,&nbsp;Hisayoshi Oka","doi":"10.1016/j.parkreldis.2024.107178","DOIUrl":"10.1016/j.parkreldis.2024.107178","url":null,"abstract":"<div><h3>Background</h3><div>Patients with Parkinson's disease (PD) have α-synuclein (α-Syn) deposition in the skin, and decreased sebum secretion due to epidermal dysfunction. However, the relationship between sebum secretion and autonomic neuropathies is unknown.</div></div><div><h3>Methods</h3><div>Using the medical records in our facility, we identified patients newly diagnosed with PD on admission from August 2020 to December 2023. We analyzed whether sebum secretory ability at multiple sites was associated with cardiac sympathetic nerve function that was assessed by cardiac ¹²³I-metaiodobenzylguanidine scintigraphy.</div></div><div><h3>Results</h3><div>Forty patients were included. Their sebum secretion ability positively correlated with the ratio of the average pixel count in the heart to that in the mediastinum (H/M ratio) in the posterior neck, the anterior chest, the arms, and the abdomen. In the multiple regression analysis, those in the arms (β, 8.8; 95 % CI, 4.4–13.2; P &lt; 0.001) and abdomen (β, 1.3; 95 % CI, 0.1–2.5; P = 0.032) were associated with the H/M ratio after controlling for age, sex, and UPDRS part III.</div></div><div><h3>Conclusion</h3><div>This study revealed an association between sebum secretion in the arms and the abdomen, and cardiac sympathetic nerve function in PD patients. The site of the sebum secretory disturbance associated with cardiac sympathetic nerves closely resembled the gradient of α-Syn deposition in the skin, corroborating its deposition pattern. Our findings suggest that noninvasive sebum measurement may serve as an adjunctive diagnostic tool of α-Syn deposition in the skin for PD and provide insights into sympathetic nerve damage alongside cardiac sympathetic nerve assessments.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107178"},"PeriodicalIF":3.1,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546697","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}