Parkinsonism & related disorders最新文献

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Algorithm for managing infusion site adverse events caused by subcutaneous foslevodopa/foscarbidopa and other device-aided therapies for advanced Parkinson's disease. 管理皮下注射磷左多巴/磷卡比多巴和其他治疗晚期帕金森病的器械辅助疗法引起的输液部位不良事件的算法。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-28 DOI: 10.1016/j.parkreldis.2024.107185
Pedro Mendes-Bastos, Rita Moiron Simoes
{"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}
引用次数: 0
Anti-NMDAr associated segmental dystonia after COVID19: Case report and literature review COVID19 后抗 NMDAr 相关节段性肌张力障碍:病例报告和文献综述。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-28 DOI: 10.1016/j.parkreldis.2024.107187
João Moura , Joana Lopes , Cristina Freitas, Raquel Samões, Joana Damásio
{"title":"Anti-NMDAr associated segmental dystonia after COVID19: Case report and literature review","authors":"João Moura , Joana Lopes , Cristina Freitas, Raquel Samões, 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}
引用次数: 0
Trajectory of change in body mass index in Parkinson's disease 帕金森病患者体重指数的变化轨迹。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-28 DOI: 10.1016/j.parkreldis.2024.107174
Emily J. Henderson , Anahita Nodehi , Finn Graham , Matthew Smith , Fiona E. Lithander , Yoav Ben-Shlomo , Michael Lawton , Emma Tenison
{"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/m<sup>2</sup>. Prior to this change point, the estimated mean rate of change in BMI was −0.09 kg/m<sup>2</sup> (95 % credible interval −0.20,0.00 kg/m<sup>2</sup>) 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/m<sup>2</sup> (95 % credible interval −0.70,-0.07 kg/m<sup>2</sup>) 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}
引用次数: 0
Neuroinflammation in Parkinson’s disease: A study with [11C]PBR28 PET and cerebrospinal fluid markers 帕金森病的神经炎症:使用 [11C]PBR28 PET 和脑脊液标记物进行的研究。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-25 DOI: 10.1016/j.parkreldis.2024.107177
H. Al-Abdulrasul , R. Ajalin , J. Tuisku , H. Zetterberg , K. Blennow , T. Vahlberg , L. Ekblad , S. Helin , S. Forsback , J.O. Rinne , A. Brück
{"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 [<sup>11</sup>C]PBR28 positron emission tomography (PET) and cerebrospinal fluid (CSF) biomarkers, and the relationship to dopaminergic functioning measured with 6-[<sup>18</sup>F]-fluoro-L-dopa ([<sup>18</sup>F]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 [<sup>11</sup>C]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 [<sup>18</sup>F]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<sub>T</sub>) of [<sup>11</sup>C]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 [<sup>11</sup>C]PBR28 V<sub>T</sub> 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 [<sup>11</sup>C]PBR28 V<sub>T</sub> 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}
引用次数: 0
Association between sebum secretion and cardiac sympathetic dysfunction in Parkinson's disease 帕金森病患者皮脂分泌与心脏交感神经功能障碍之间的关系
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-22 DOI: 10.1016/j.parkreldis.2024.107178
Tomomichi Kitagawa, Renpei Sengoku, Masakazu Ozawa, Hiromasa Matsuno, Tadashi Umehara, Atsuo Nakahara, Hisayoshi Oka
{"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 <sup>123</sup>I-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}
引用次数: 0
Risk factors and evolution of weight loss in Parkinson's disease: A 9-year population-based study 帕金森病患者体重减轻的风险因素和演变:一项为期 9 年的人群研究
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-22 DOI: 10.1016/j.parkreldis.2024.107181
Ida Kristiansen , Ylva Hivand Hiorth , Anastasia Ushakova , Ole-Bjørn Tysnes , Guido Alves
{"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}
引用次数: 0
Online unsupervised performance-based cognitive testing: A feasible and reliable approach to scalable cognitive phenotyping of Parkinson's patients 基于表现的在线无监督认知测试:对帕金森病人进行可扩展认知表型的可行且可靠的方法。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-22 DOI: 10.1016/j.parkreldis.2024.107183
Nasri Balit, Sophie Sun, Yilin Zhang, Madeleine Sharp
{"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}
引用次数: 0
Temporal ordering of cognitive impairment in Parkinson's disease patients based on disease progression models 基于疾病进展模型的帕金森病患者认知障碍的时间排序
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-21 DOI: 10.1016/j.parkreldis.2024.107184
Carlos Platero , José Ángel Pineda-Pardo
{"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><sub><em>42</em></sub>) 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><sub>42</sub> 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}
引用次数: 0
Taxonomic intestinal microbiota differences in Lewy body spectrum disease and cohabitant controls 路易体谱系疾病与同居对照组的肠道微生物群分类差异。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-16 DOI: 10.1016/j.parkreldis.2024.107176
Levi M. Teigen , Stuart J. McCarter , Zachary Ziegert , Christopher Staley , Kiera M. Grant , Vinod K. Gupta , Xiaowei Zhao , Erik K. St Louis , Kejal Kantarci , Val J. Lowe , Leah K. Forsberg , Rodolfo Savica , Vijay K. Ramanan , David T. Jones , Ronald C. Petersen , Jaeyun Sung , Alexander Khoruts , Bradley F. Boeve , Owen A. Ross
{"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}
引用次数: 0
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient 一名突尼斯患者患有肌萎缩侧索硬化症和多巴反应性肌张力障碍。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2024-10-16 DOI: 10.1016/j.parkreldis.2024.107171
Imen Kacem, Ikram Sghaier, Hanene Ben Rhouma, Antonia Ratti, Nicola Ticozzi, Vincenzo Silani, Neziha Gouider-Khouja, Riadh Gouider
{"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}
引用次数: 0
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