{"title":"Unraveling Hormonal Influence of Menstrual Cycle in a Young Patient with LRRK2-Parkinson's Disease.","authors":"Francisca Ferreira, Carolina Correia, Carolina Soares","doi":"10.1002/mdc3.14337","DOIUrl":"https://doi.org/10.1002/mdc3.14337","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kai Grimm, Alessandro Gulberti, Wolfgang Hamel, Monika Pötter-Nerger, Carsten Buhmann, Christian K E Moll, Simone Zittel
{"title":"Mood Lability Induced by Pallidal Deep Brain Stimulation in a Patient with Meige Syndrome.","authors":"Kai Grimm, Alessandro Gulberti, Wolfgang Hamel, Monika Pötter-Nerger, Carsten Buhmann, Christian K E Moll, Simone Zittel","doi":"10.1002/mdc3.14332","DOIUrl":"https://doi.org/10.1002/mdc3.14332","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ana Carolina Martins, Gabriel Vasata Furtado, Jordânia Dos Santos Pinheiro, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim
{"title":"Rural Environment as a Risk Factor for the Age at Onset of Machado-Joseph Disease.","authors":"Ana Carolina Martins, Gabriel Vasata Furtado, Jordânia Dos Santos Pinheiro, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim","doi":"10.1002/mdc3.14338","DOIUrl":"https://doi.org/10.1002/mdc3.14338","url":null,"abstract":"<p><strong>Background: </strong>Machado-Joseph disease (SCA3/MJD) is a neurodegenerative condition caused by a dominant expansion of a CAG repeat (CAGexp). Most of the variability in the age at onset of symptoms (AO) remains unexplained, and environmental influences were scarcely studied.</p><p><strong>Objective: </strong>The objective was to test if AO of SCA3/MJD carriers can be associated with markers of the rural environment, such as demographic density (DeD), proportion of rural population (PRP), and the consumption of untreated well water (CWW).</p><p><strong>Methods: </strong>Symptomatic subjects from Rio Grande do Sul, Brazil, diagnosed between 1999 and 2017, and living in the same municipalities where they were born, were included, provided their CAGexp and AO were available, and the residual AO (RAO) could be estimated. DeD, PRP, and CWW were obtained from the Brazilian Census of 2010. Participants were stratified in high versus low DeD, PRP, and CWW groups, and their RAOs were compared for a P < 0.05.</p><p><strong>Results: </strong>A total of 188 subjects were studied. The mean (SD) RAOs of subjects from low and high DeD groups were -1.90 (6.98) and -0.11 (6.20) (P = 0.046); from low and high PRP groups were -0.12 (6.20) and -1.90 (6.99) (P = 0.046); and from low and high CWW groups were -0.11 (6.04) and -1.89 (7.11) (P = 0.034).</p><p><strong>Conclusions: </strong>AO of SCA3/MJD carriers was earlier in groups related to rural life. Our evidence suggests the presence of a risk factor in the rural environment, for earlier onset of symptoms in SCA3/MJD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sofia Bordet, Lina Grasso, Lucas Udovin, Guenson Chevalier, Matilde Otero-Losada, Francisco Capani, Santiago Perez-Lloret
{"title":"An Open-Label, Non-randomized, Drug-Repurposing Study to Explore the Clinical Effects of Angiotensin II Type 1 (AT1) Receptor Antagonists on Anxiety and Depression in Parkinson's Disease.","authors":"Sofia Bordet, Lina Grasso, Lucas Udovin, Guenson Chevalier, Matilde Otero-Losada, Francisco Capani, Santiago Perez-Lloret","doi":"10.1002/mdc3.14326","DOIUrl":"https://doi.org/10.1002/mdc3.14326","url":null,"abstract":"<p><strong>Background: </strong>The cerebral Renin-Angiotensin System might have a role in anxiety and depression development.</p><p><strong>Objective: </strong>We explored the effects of Angiotensin II Type 1 receptor blockers (ARBs) and angiotensin-converting enzyme inhibitors (ACE-Is) on anxiety and depression in Parkinson's Disease (PD).</p><p><strong>Methods: </strong>Four hundred and twenty-three newly diagnosed drug-naïve PD patients were evaluated using the State-Trait Anxiety Inventory (STAI) and Geriatric Depression Scale (GDS-15) tests and were monitored at baseline and for up to 3 years.</p><p><strong>Results: </strong>Twelve patients were treated with ARBs and 42 with ACE-Is. ARB-treated patients had lower anxiety STAI scores than those on ACE-Is or drug-free at baseline (17.2 ± 1.3 vs. 21.3 ± 1.3, or 23.8 ± 0.5, respectively, P = 0.021) and during the follow-up (P < 0.01). Depression scores were unaffected by any of the drugs throughout the study.</p><p><strong>Conclusion: </strong>This small sample of ARB-treated PD patients displayed lower levels of anxiety. Randomized clinical trials are warranted.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143007828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lucas Bruno Rezende, Caroline Nogueira Aguiar, Jesus Mística Ventura Balbino, Débora Palma Maia, Ricardo Horta Maciel, Sarah Teixeira Camargos, Francisco Cardoso
{"title":"Niemann-Pick Type C Disease: From Variant of Uncertain Significance to Pathogenic Variant.","authors":"Lucas Bruno Rezende, Caroline Nogueira Aguiar, Jesus Mística Ventura Balbino, Débora Palma Maia, Ricardo Horta Maciel, Sarah Teixeira Camargos, Francisco Cardoso","doi":"10.1002/mdc3.14340","DOIUrl":"https://doi.org/10.1002/mdc3.14340","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
David S Goldstein, Parvez Alam, Patti Sullivan, Courtney Holmes, Janna Gelsomino, Andrew G Hughson, Byron Caughey
{"title":"Elevated Cerebrospinal Fluid α-Synuclein Seeding Activity Predicts Central Lewy Body Diseases.","authors":"David S Goldstein, Parvez Alam, Patti Sullivan, Courtney Holmes, Janna Gelsomino, Andrew G Hughson, Byron Caughey","doi":"10.1002/mdc3.14333","DOIUrl":"https://doi.org/10.1002/mdc3.14333","url":null,"abstract":"<p><strong>Background: </strong>Cerebrospinal fluid (CSF) α-synuclein seeding activity (SSA) via a seed amplification assay might predict central Lewy body diseases (LBD) in at-risk individuals.</p><p><strong>Objective: </strong>The aim was to assess CSF SSA in a prospective, longitudinal study.</p><p><strong>Methods: </strong>Participants self-reported risk factors were genetics, olfactory dysfunction, dream enactment behavior, orthostatic intolerance, or hypotension; individuals who had ≥3 confirmed risk factors underwent CSF sampling and were followed for up to 7.5 years. Participants who developed a central LBD (LBD+) were compared to those who did not. Quadruplicate SSA areas under the curve (AUC) were averaged.</p><p><strong>Results: </strong>Of 11 subjects with average AUCs above 500,000 units, 7 (64%) developed a central LBD compared to 1 of 20 (5%), with AUCs below the cutoff value (P = 0.0011 by log-rank test). Conversely, 7 of 8 (88%) LBD+ participants had elevated initial AUCs.</p><p><strong>Conclusions: </strong>Increased CSF SSA predicts central LBDs. Individuals who develop a central LBD have elevated initial SSA AUCs.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143007945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Talyta Grippe, Peter Tai, Adrian Budhram, Robert Chen, Anthony E Lang
{"title":"Protracted Presentation of Anti-LGI 1 Encephalitis Associated with Prostate Cancer: A Case Report.","authors":"Talyta Grippe, Peter Tai, Adrian Budhram, Robert Chen, Anthony E Lang","doi":"10.1002/mdc3.14334","DOIUrl":"https://doi.org/10.1002/mdc3.14334","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Laura Cif, Patricia Limousin, Zohra Souei, Marwan Hariz, Joachim K Krauss
{"title":"Alternative Deep Brain Stimulation Targets in the Treatment of Isolated Dystonic Syndromes: A Multicenter Experience-Based Survey.","authors":"Laura Cif, Patricia Limousin, Zohra Souei, Marwan Hariz, Joachim K Krauss","doi":"10.1002/mdc3.14324","DOIUrl":"https://doi.org/10.1002/mdc3.14324","url":null,"abstract":"<p><strong>Background: </strong>The globus pallidus internus (GPi) is the traditional evidence-based deep brain stimulation (DBS) target for treating dystonia. Although patients with isolated \"primary\" dystonia respond best to GPi-DBS, some are primary or secondary nonresponders (improvement <25%), showing variability in clinical response.</p><p><strong>Objective: </strong>The aim was to survey current practices regarding alternative DBS targets for isolated dystonia patients with focus on nonresponders to GPi-DBS.</p><p><strong>Methods: </strong>A 42-question survey was emailed and distributed during a DBS conference to clinicians involved in DBS for dystonia. The survey covered (1) use of alternative DBS targets as primary or rescue options, (2) target selection based on dystonia phenomenology, (3) experience with secondary nonresponders to GPi-DBS, and (4) management of patients with additional DBS leads.</p><p><strong>Results: </strong>The response rate was 53.8%, including neurologists and neurosurgeons from 28 DBS centers in 13 countries; 89% of neurologists and 86% of neurosurgeons used alternative DBS targets to GPi, with subthalamic nucleus being the most common initial or rescue alternative to GPi. Patients with additional tremor received DBS in the ventral intermediate nucleus or caudal zona incerta. Individual experience ranged from 5 to 25 patients. Most patients were still receiving dual target stimulation at the last follow-up.</p><p><strong>Conclusions: </strong>We show that more than 85% of surveyed clinicians use alternative DBS targets, mostly in some isolated dystonia patients not adequately responsive to GPi-DBS. More knowledge is needed to evaluate outcomes in alternative targets and establish the best strategies for managing insufficient GPi-DBS response in dystonia patients with diverse phenomenology. Our article contributes to establishing a clearer time frame and criteria for defining nonresponders in dystonia patients undergoing DBS.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}