Movement Disorders Clinical Practice最新文献

{"title":"Opicapone to Treat Early Wearing-off in Parkinson's Disease Patients: The Korean ADOPTION Trial.","authors":"Jee-Young Lee, Hyeo-Il Ma, Joauqim J Ferreira, José-Francisco Rocha, Y. Sung, In-Uk Song, Tae-Beom Ahn, Do Young Kwon, Sang-Myung Cheon, Jong-Min Kim, Chong Sik Lee, Phil Hyu Lee, Jeong-Ho Park, Jae-Hyeok Lee, Mee-Young Park, Sang Jin Kim, Jong Sam Baik, Seong-Min Choi, Hae-Won Shin, Ho-Won Lee, Suk Yun Kang, B. Jeon","doi":"10.1002/mdc3.14030","DOIUrl":"https://doi.org/10.1002/mdc3.14030","url":null,"abstract":"BACKGROUND\u0000Increasing levodopa (L-dopa)/dopa decarboxylase inhibitor (DDCI) daily dose or adding a catechol-O-methyltransferase (COMT) inhibitor to levodopa/DDCI therapy are strategies used to manage wearing-off symptoms in Parkinson's disease (PD) patients.\u0000\u0000\u0000OBJECTIVES\u0000To evaluate the COMT inhibitor opicapone versus an additional dose of levodopa to treat early wearing-off in PD patients.\u0000\u0000\u0000METHODS\u0000ADOPTION was a randomized, parallel-group, open-label, Phase 4 study conducted in Korea. At baseline, eligible patients were randomized (1:1) to opicapone 50 mg (n = 87) or L-dopa 100 mg (n = 81) (added to current L-dopa/DDCI therapy) for 4 weeks. The main efficacy endpoint was change from baseline to end of study in absolute off time. Other endpoints included changes in on time, in Movement Disorder Society-Unified Parkinson's Disease Rating Scale and 8-item PD Questionnaire scores, and the Clinical and Patient Global Impression of Improvement/Change.\u0000\u0000\u0000RESULTS\u0000The adjusted mean in absolute off time was significantly greater for opicapone 50 mg than for L-dopa 100 mg (-62.1 vs. -16.7 minutes; P = 0.0015). Opicapone-treated patients also reported a greater reduction in the percentage of off time (P = 0.0015), a greater increase in absolute on time (P = 0.0338) and a greater increase in the percentage of on time (P = 0.0015). There were no significant differences in other secondary endpoints. The L-dopa equivalent daily dose was significantly higher in the opicapone group (750.9 vs. 690.0 mg; P = 0.0247), when a 0.5 conversion factor is applied.\u0000\u0000\u0000CONCLUSIONS\u0000Opicapone 50 mg was more effective than an additional 100 mg L-dopa dose at decreasing off time in patients with PD and early wearing-off.","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"8 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140727057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.","authors":"Carla D Zingariello, Dong-Hui Chen, Wendy H. Raskind, William B Slayton, Sub H Subramony, Joyce Severance, Megan Feagle, Sonja A Rasmussen","doi":"10.1002/mdc3.14038","DOIUrl":"https://doi.org/10.1002/mdc3.14038","url":null,"abstract":"BACKGROUND\u0000Most published reports on SAMD9L-related ataxia-pancytopenia syndrome (ATXPC) have emphasized the hematologic findings. Fewer details are known about the progression of neurologic manifestations and methods for monitoring them.\u0000\u0000\u0000CASES\u0000We present six individuals from two families transmitting a heterozygous variant in SAMD9L, exhibiting clinical variations in their hematologic and neurologic findings. Serial motor function testing was used to monitor motor proficiency over a 2 to 3 year period in the proband and his father from Family 1.\u0000\u0000\u0000CONCLUSIONS\u0000Our case series focuses on the neurologic progression in patients with heterozygous variants in SAMD9L. Patients with ATXPC should be followed to evaluate a wide range of neurologic manifestations. Serial motor function testing using a standardized method is helpful to track changes in balance and coordination in children and adults with ATXPC and could aid in a future extended natural history study.","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"115 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140724469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing Essential Tremor with and without Soft Dystonic Signs and Tremor Combined with Dystonia: The TITAN Study.","authors":"R. Erro, G. Lazzeri, Carmen Terranova, G. Paparella, A. Gigante, R. De Micco, L. Magistrelli, F. Di Biasio, Francesca Valentino, V. Moschella, Andrea Pilotto, Marcello Esposito, Enrica Olivola, M. Malaguti, Roberto Ceravolo, C. Dallocchio, Francesca Spagnolo, Alessandra Nicoletti, A. De Rosa, R. Di Giacopo, Cristiano Sorrentino, Alessandro Padovani, M. C. Altavista, Claudio Pacchetti, Roberta Marchese, E. Contaldi, Alessandro Tessitore, S. Misceo, M. Bologna, Vincenzo Rizzo, Giulia Franco, Paolo Barone","doi":"10.1002/mdc3.14026","DOIUrl":"https://doi.org/10.1002/mdc3.14026","url":null,"abstract":"BACKGROUND\u0000Tremor disorders remain as clinical diagnoses and the rate of misdiagnosis between the commonest non-parkinsonian tremors is relatively high.\u0000\u0000\u0000OBJECTIVES\u0000To compare the clinical features of Essential Tremor without other features (pure ET), ET plus soft dystonic signs (ET + DS), and tremor combined with dystonia (TwD).\u0000\u0000\u0000METHODS\u0000We compared the clinical features of patients with pure ET, ET + DS, and TwD enrolled in The ITAlian tremor Network (TITAN). Linear regression models were performed to determine factors associated with health status and quality of life.\u0000\u0000\u0000RESULTS\u0000Three-hundred-eighty-three patients were included. Sex distribution was significantly different between the groups with males being more represented in pure ET and females in TwD. The initial site of tremor was different between the groups with about 40% of TwD having head tremor and ET + DS unilateral upper limb tremor at onset. This pattern mirrored the distribution of overt dystonia and soft dystonic signs at examination. Sensory trick, task-specificity, and position-dependence were more common, but not exclusive, to TwD. Pure ET patients showed the lowest degree of alcohol responsiveness and ET + DS the highest. Midline tremor was more commonly encountered and more severe in TwD than in the other groups. Regression analyses demonstrated that tremor severity, sex, age, and to a lesser degree the variable \"group\", independently predicted health status and quality of life, suggesting the existence of other determinants beyond tremor.\u0000\u0000\u0000CONCLUSIONS\u0000Pure ET and TwD manifest with a phenotypic overlap, which calls for the identification of diagnostic biomarkers. ET + DS shared features with both syndromes, suggesting intra-group heterogeneity.","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"84 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140725821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Motor Complications in Parkinson's Disease: Results from 3343 Patients Followed for up to 12 Years.","authors":"Sacha E Gandhi, T. Zerenner, A. Nodehi, M. Lawton, Vicky Marshall, Falah Al-Hajraf, K. Grosset, Huw R. Morris, Michele T Hu, Y. Ben-Shlomo, Donald G. Grosset","doi":"10.1002/mdc3.14044","DOIUrl":"https://doi.org/10.1002/mdc3.14044","url":null,"abstract":"BACKGROUND\u0000Motor complications are well recognized in Parkinson's disease (PD), but their reported prevalence varies and functional impact has not been well studied.\u0000\u0000\u0000OBJECTIVES\u0000To quantify the presence, severity, impact and associated factors for motor complications in PD.\u0000\u0000\u0000METHODS\u0000Analysis of three large prospective cohort studies of recent-onset PD patients followed for up to 12 years. The MDS-UPDRS part 4 assessed motor complications and multivariable logistic regression tested for associations. Genetic risk score (GRS) for Parkinson's was calculated from 79 single nucleotide polymorphisms.\u0000\u0000\u0000RESULTS\u00003343 cases were included (64.7% male). Off periods affected 35.0% (95% CI 33.0, 37.0) at 4-6 years and 59.0% (55.6, 62.3) at 8-10 years. Dyskinesia affected 18.5% (95% CI 16.9, 20.2) at 4-6 years and 42.1% (38.7, 45.5) at 8-10 years. Dystonia affected 13.4% (12.1, 14.9) at 4-6 years and 22.8% (20.1, 25.9) at 8-10 years. Off periods consistently caused greater functional impact than dyskinesia. Motor complications were more common among those with higher drug doses, younger age at diagnosis, female gender, and greater dopaminergic responsiveness (in challenge tests), with associations emerging 2-4 years post-diagnosis. Higher Parkinson's GRS was associated with early dyskinesia (0.026 ≤ P ≤ 0.050 from 2 to 6 years).\u0000\u0000\u0000CONCLUSIONS\u0000Off periods are more common and cause greater functional impairment than dyskinesia. We confirm previously reported associations between motor complications with several demographic and medication factors. Greater dopaminergic responsiveness and a higher genetic risk score are two novel and significant independent risk factors for the development of motor complications.","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"32 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140732436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep Brain Stimulation for Orthostatic Tremor: An Observational Study.","authors":"W. A. Babeliowsky, M. Bot, W. Potters, P. van den Munckhof, Edwin R Blok, Rob MA de Bie, Rick Schuurman, A. van Rootselaar","doi":"10.1002/mdc3.14035","DOIUrl":"https://doi.org/10.1002/mdc3.14035","url":null,"abstract":"BACKGROUND\u0000Primary orthostatic tremor (OT) can affect patients' life. Treatment of OT with deep brain stimulation (DBS) of the thalamic ventral intermediate nucleus (Vim) is described in a limited number of patients. The Vim and posterior subthalamic area (PSA) can be targeted in a single trajectory, allowing both stimulation of the Vim and/or dentatorubrothalamic tract (DRT). In essential tremor this is currently often used with positive effects.\u0000\u0000\u0000OBJECTIVE\u0000To evaluate the efficacy of Vim/DRT-DBS in OT-patients, based on standing time and Quality of Life (QoL), also on the long-term. Furthermore, to relate stimulation of the Vim and DRT, medial lemniscus (ML) and pyramidal tract (PT) to beneficial clinical and side-effects.\u0000\u0000\u0000METHODS\u0000Nine severely affected OT-patients received bilateral Vim/DRT-DBS. Primary outcome measure was standing time; secondary measures included self-reported measures, neurophysiological measures, structural analyses, surgical complications, stimulation-induced side-effects, and QoL up to 56 months. Stimulation of volume of tissue activated (VTA) were related to outcome measures.\u0000\u0000\u0000RESULTS\u0000Average maximum standing time increased from 41.0 s ± 51.0 s to 109.3 s ± 65.0 s after 18 months, with improvements measured in seven of nine patients. VTA (n = 7) overlapped with the DRT in six patients and with the ML and/or PT in six patients. All patients experienced side-effects and QoL worsened during the first year after surgery, which improved again during long-term follow-up, although remaining below age-related normal values. Most patients reported a positive effect of DBS.\u0000\u0000\u0000CONCLUSION\u0000Vim/DRT-DBS improved standing time in patients with severe OT. Observed side-effects are possibly related to stimulation of the ML and PT.","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"157 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140731168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors Influencing Patient Disclosure of Parkinson's Disease Genetic Testing Results to Relatives.","authors":"J. Schulze, Jasmine Kaur Dhaliwal, Mandy Miller, Emily Quinn, L. Wetherill, L. Cook","doi":"10.1002/mdc3.14043","DOIUrl":"https://doi.org/10.1002/mdc3.14043","url":null,"abstract":"BACKGROUND\u0000Persons with Parkinson's disease (PD) who have received genetic test results are faced with the decision of whether, and how, to share that information with family. Studies in other specialties have shown high rates of disclosure motivated by a sense of responsibility. Rates of, and attitudes surrounding, disclosure have yet to be reported in this population.\u0000\u0000\u0000OBJECTIVES\u0000To explore the disclosure practices and motivations of patients with PD regarding genetic test results, allowing insight to guide genetic counseling and navigation of test result discussions.\u0000\u0000\u0000METHODS\u0000A cross-sectional online survey was distributed to adults with PD and previous genetic test results. Survey questions assessed demographics, genetic testing results and delivery, sharing behaviors, perceptions of PD, and motivations and barriers to family disclosure.\u0000\u0000\u0000RESULTS\u0000Among respondents, 88.9% shared results with at least one family member, most often a child (73.5%) or sibling (65.4%). Seventy-four percent reported sharing results with someone outside of their family, most frequently a friend (88.4%). The most common motivation for disclosure was the perception that family members would want to know. Barriers to disclosure were lack of close relationships, understanding results, and perceived utility.\u0000\u0000\u0000CONCLUSIONS\u0000Disclosure rates in this PD population were consistent with those in previously reported populations. Motivations were anchored in perceptions of utility and family desire for information, suggesting a need to adjust patient education to improve retention and to explore family dynamics and perceptions of results.","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"20 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140729962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.","authors":"Tatiana Usnich, L. F. Becker, Inga Nagel, Tobias Bäumer, Alexander Münchau","doi":"10.1002/mdc3.14037","DOIUrl":"https://doi.org/10.1002/mdc3.14037","url":null,"abstract":"","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"82 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140729196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sensory Trick in Cervical Dystonia with Subacute Sclerosing Panencephalitis.","authors":"Divyani Garg, A. Agarwal, A. Srivastava","doi":"10.1002/mdc3.14045","DOIUrl":"https://doi.org/10.1002/mdc3.14045","url":null,"abstract":"","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"24 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140744126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Imaging in CANVAS: A Contribution for Differential Diagnosis?","authors":"T. Horowitz, Eric Guedj, Alexandre Eusebio, F. Fluchère, J. Azulay, Emilien Delmont, Stephan Grimaldi","doi":"10.1002/mdc3.14041","DOIUrl":"https://doi.org/10.1002/mdc3.14041","url":null,"abstract":"BACKGROUND\u0000Phenotypes of CANVAS are increasingly diversified, including bradykinesia and dysautonomia, so that its primary differential diagnoses are multiple system atrophy-cerebellar type (MSA-c), and spinocerebellar ataxia type 3 (SCA3). This case series aims to highlight key molecular imaging findings in CANVAS.\u0000\u0000\u0000CASES\u0000We report a case series of six patients with CANVAS who underwent nuclear medicine examinations in our center and 13 patients from the literature. These include 18F-FDG brain positron emission tomography (PET), single photon emission computed tomography (SPECT) of dopamine transporter (DaT) activity, and 123I-MIBG cardiac scintigraphy of noradrenergic transmission.\u0000\u0000\u0000CONCLUSIONS\u0000In CANVAS, 18F-FDG brain PET mainly shows cerebellar hypometabolism, with preserved brainstem and striatum metabolism, contrasting with SCA3 and MSA-c. Dopaminergic denervation on scintigraphy seems to be associated with clinical parkinsonism, ranging from normal to severely impaired DaT SPECT. Additionally, 123I-MIBG cardiac scintigraphy might show denervation in CANVAS, similar to SCA3, but not in most MSA-c patients.","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"4 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140745179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in Caregiver Burden Following Unilateral Magnetic Resonance-Guided Focused Ultrasound Thalamotomy for Essential Tremor.","authors":"Georgia Gopinath, N. Scantlebury, Isabella J Sewell, Camryn R Rohringer, Shayan Sivadas, Melissa Mcsweeney, Silina Z Boshmaf, Benjamin Lam, Clement Hamani, A. Abrahão, Michael L. Schwartz, N. Lipsman, Jennifer S. Rabin","doi":"10.1002/mdc3.14034","DOIUrl":"https://doi.org/10.1002/mdc3.14034","url":null,"abstract":"","PeriodicalId":509823,"journal":{"name":"Movement Disorders Clinical Practice","volume":"19 S1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140741846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}