Movement Disorders Clinical Practice最新文献

{"title":"Identifying the Diagnostic Challenges and Indicators of Orthostatic Tremor: Patient Perspectives.","authors":"Wietske A Babeliowsky, Kiel Woodward, Bart Swinnen, Sarah Doss, Michael Muir, Rob M A de Bie, Diego R Torres-Russotto, Anne-Fleur van Rootselaar","doi":"10.1002/mdc3.70081","DOIUrl":"https://doi.org/10.1002/mdc3.70081","url":null,"abstract":"<p><strong>Background: </strong>The diagnosis of orthostatic tremor (OT) is challenging because of its non-specific symptoms and a broad range of differential diagnosis, resulting in a complex and lengthy diagnostic journey.</p><p><strong>Objective: </strong>The aim was to assess the diagnostic delay in OT and to identify key clinical indicators as reported by patients.</p><p><strong>Methods: </strong>In 2019, the American OT community developed and distributed a web-based survey titled \"Symptoms and Diagnosis of Orthostatic Tremor (OT).\" The survey included questions on demographics, the diagnostic process, and symptomatology.</p><p><strong>Results: </strong>An international cohort of 360 OT patients participated in the study, of which 147 with electromyography (EMG)-confirmed and 213 symptom-based OT. In the EMG-confirmed OT group, respondents reported an average diagnostic delay of 7.4 (±8.5) years on average, attributed to delays at both the patient and physician level. A diagnosis was made by a movement disorders specialist in 75 (51.0%) of 147 cases. Misdiagnosis initially occurred in 57 (38.8%) of 147 patients, whereas 49 (33.3%) of 147 patients suspected OT before receiving a formal diagnosis. OT was commonly reported a progressive condition. The most frequent symptoms on standing that prompted patients to seek medical attention included: \"shakiness/tremors in both legs\" (92.5%), \"feelings of unsteadiness or imbalance\" (75.5%), \"toe curling\" (61.9%), and the \"feeling of falling while standing\" (45.6%). Notably, 70.0% of respondents reported experiencing anxiety at least occasionally. These findings closely align with the findings of the symptom-based OT group.</p><p><strong>Conclusion: </strong>This study underscores a significant diagnostic delay in OT and identifies key clinical indicators, which could facilitate earlier diagnosis.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035069","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}

{"title":"Argyrophilic Grain Disease Clinically Presenting as Progressive Supranuclear Palsy with Progressive Gait Freezing.","authors":"Renpei Sengoku, Akira Arakawa, Tomoyasu Matsubara, Masashi Kameyama, Aya M Tokumaru, Kenji Ishii, Kazutomi Kanemaru, Airi Tarutani, Masato Hasegawa, Atsushi Iwata, Shigeo Murayama, Yuko Saito","doi":"10.1002/mdc3.70053","DOIUrl":"https://doi.org/10.1002/mdc3.70053","url":null,"abstract":"<p><strong>Background: </strong>Argyrophilic grain disease (AGD) is a four-repeat tauopathy characterized by the accumulation of argyrophilic grains. Its primary clinical manifestation is late-onset amnestic dementia. While the extension of argyrophilic grains to the substantia nigra may be related to its potential association with parkinsonism, biochemical analyses are lacking.</p><p><strong>Objectives: </strong>To elucidate the extent of AGD to the midbrain, including the substantia nigra, using histopathological examination and biochemical analysis in a pathologically proven case of AGD presenting with parkinsonism and cognitive impairment.</p><p><strong>Methods: </strong>We describe the case of a patient suggestive of progressive supranuclear palsy. Neuropathological and biochemical investigations were performed.</p><p><strong>Results: </strong>Neurological examination of an 80-year-old man with a 6-year history of gait disturbance revealed parkinsonism, including gait freezing, postural instability, bradykinesia, and cognitive impairment. The patient was diagnosed with progressive supranuclear palsy with progressive gait freezing. Five years later, the patient reported falling backward repeatedly, became wheelchair-bound, and died of pneumonia. Macroscopic observations revealed marked amygdala atrophy. Microscopic findings revealed argyrophilic grains in the limbic system, compatible with Saito stage III, as well as in the substantia nigra and midbrain tegmentum. Western blotting showed an AGD-specific band pattern, and immunoelectron microscopy analyses showed an AGD-specific tau filament of abnormally phosphorylated tau in both the nucleus accumbens and midbrain.</p><p><strong>Conclusions: </strong>This report further confirmed that AGD presents with parkinsonism, commensurate with AGD pathology and biochemical findings extending to the midbrain. Therefore, AGD should be considered in the differential diagnosis of cases presenting with parkinsonism and cognitive impairment in the older population.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029015","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}

{"title":"Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.","authors":"María Camila Cortés-Rojas, Ana María Zarante-Bahamón, Jorge Luis Ramón-Gómez","doi":"10.1002/mdc3.70092","DOIUrl":"https://doi.org/10.1002/mdc3.70092","url":null,"abstract":"<p><strong>Background: </strong>Spastic ataxia type 5 (SPAX5) is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the AFG3L2 gene. It is characterized by spasticity, cerebellar ataxia, dystonia, and myoclonic epilepsy.</p><p><strong>Objectives: </strong>The objective was to describe the clinical features, with a focus on abnormal movements, and therapeutic outcomes in two Colombian patients with SPAX5.</p><p><strong>Methods: </strong>Two non-consanguineous patients were evaluated for movement disorders, including spasticity, dystonia, and myoclonus, along with developmental regression and seizures. Treatment responses to antiepileptic drugs and levodopa were analyzed.</p><p><strong>Results: </strong>Both patients presented with lower extremity spasticity, generalized dystonia, myoclonus, and seizures. Their responses to treatment were highly variable.</p><p><strong>Conclusions: </strong>This study emphasizes the importance of abnormal movements in the clinical presentation of SPAX5 and highlights the variability in treatment outcomes.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025541","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}

{"title":"Ocular Neuromyotonia-A Rare but Reversible Cause of Intermittent Diplopia.","authors":"Parthvi Ravat, Paul Stockle, Mahadya Rahman, Pegah Ahmadiyan Ardestani, Andrew Lee","doi":"10.1002/mdc3.70103","DOIUrl":"https://doi.org/10.1002/mdc3.70103","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991122","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}

{"title":"Self-Perception of Drooling Impact in People with Parkinson's Disease: A Case-Control and Cross-Sectional Study.","authors":"David Nascimento, Bruna Meira, Luís Garcez, Daisy Abreu, Tiago F Outeiro, Isabel Guimarães, Joaquim J Ferreira","doi":"10.1002/mdc3.70077","DOIUrl":"https://doi.org/10.1002/mdc3.70077","url":null,"abstract":"<p><strong>Background: </strong>Drooling, defined as the involuntary loss of saliva from the anterior oral cavity, is potentially problematic for people with Parkinson's disease (PwP). However, there is little research on how PwP perceive the impact of drooling and what factors contribute to it.</p><p><strong>Objectives: </strong>The objective was to evaluate the self-perceived impact of drooling in people with and without Parkinson's disease and the contributing clinical factors in PwP.</p><p><strong>Methods: </strong>We conducted a cross-sectional and case-control study. Participants were clinically examined, and the primary outcome was the Sialorrhea Clinical Scale for Parkinson's disease. Clinical variables were compared between PwP and control subjects using the Mann-Whitney test, correlations between drooling impact and clinical factors in PwP were analyzed using Spearman's test, and predictors were identified using linear regression.</p><p><strong>Results: </strong>The study included 101 PwP and 101 sex- and age-matched controls. PwP experienced significantly more severe impact of drooling compared to controls across all domains: diurnal and nocturnal drooling, drooling severity and frequency, social discomfort, speech, and eating impairments. The greater impact of drooling in PwP was significantly associated with drooling severity, disease duration, levodopa equivalent daily dose, clinical global impression of saliva accumulation (CGI-S), chewing, swallowing, speech, oromotor, motor and non-motor impairments. Significant predictors of greater impact of drooling in PwP include drooling severity, higher CGI-S, facial expression, and swallowing impairments.</p><p><strong>Conclusions: </strong>PwP have a significantly greater impact of drooling compared to controls, affecting several domains. Drooling impact and its contributing clinical factors should be investigated in a Parkinson's consultation.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981898","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}

{"title":"Lewy Body Dementia Research in Latin America: A Scoping Review.","authors":"Carlos Cano-Gutiérrez, Salomón Salazar-Londoño, Felipe Botero-Rodriguez, Salomón Páez-García, Salomón Giraldo, José Manuel Santacruz-Escudero, Dag Aarsland, Miguel Germán Borda","doi":"10.1002/mdc3.70059","DOIUrl":"https://doi.org/10.1002/mdc3.70059","url":null,"abstract":"<p><strong>Background: </strong>Dementia research in Latin America (LA) has primarily focused on Alzheimer's Disease and Frontotemporal Dementia, while Lewy body dementia (LBD) has been largely forgotten.</p><p><strong>Objective: </strong>We aimed to review the available evidence on LBD in LA, offering a comprehensive perspective for understanding the lack of reports and the unique challenges and characteristics of this region.</p><p><strong>Methods: </strong>We carried out a scoping review in databases: PubMed, EMBASE, LILACS, and Web of Science. Original studies that included participants with LBD were analyzed.</p><p><strong>Results: </strong>Of the 1388 studies identified, 70 met the inclusion criteria for this review. Among them, 63 were cross-sectional studies, three were cohort studies, two followed a case-control methodology, and only two were non-randomized clinical trials. These studies primarily examined clinical manifestations, risk factors, neuropsychiatric and non-motor symptoms, as well as cognitive impairment and its assessment in LBD within LA. Regarding geographical distribution, 52 studies were conducted in Brazil, seven in Argentina, the rest in Peru, Mexico, Colombia, Cuba, and Chile.</p><p><strong>Conclusions: </strong>LBD research in LA is underrepresented, with most studies being cross-sectional, few utilizing a longitudinal design, and only two clinical trials, both of which lack rigorous methodology. Challenges include weak study designs, high heterogeneity, limited trials, and unclear differentiation within the LBD spectrum. Addressing these gaps requires increasing awareness, strengthening research capacity, securing funding, and fostering international collaboration.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020719","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}

{"title":"Tuberculosis Related Movement Disorders: A Systematic Scoping Review Highlighting Geographic Disparities, Phenotypic Patterns, Treatment Responses, and Knowledge Gaps in Global Reporting.","authors":"Soaham Desai, Ravi Yadav, Divyani Garg, Susanne A Schneider, Pramod Kumar Pal","doi":"10.1002/mdc3.70099","DOIUrl":"https://doi.org/10.1002/mdc3.70099","url":null,"abstract":"<p><strong>Background: </strong>Tuberculosis (TB) of the central nervous system (CNS) is a severe complication of TB, with movement disorders representing an under-recognized yet impactful manifestation. Despite their clinical significance, knowledge gaps persist in epidemiology, pathophysiology, and management of TB-related movement disorders (TBRMDs).</p><p><strong>Objective: </strong>This scoping review synthesizes evidence on TBRMDs, aiming to characterize their spectrum, evaluate diagnostic approaches, and summarize management strategies and outcomes.</p><p><strong>Methods: </strong>Following PRISMA-ScR guidelines, a systematic search of PubMed, EMBASE, and Scopus (final search: December 31, 2024) identified studies of all designs and languages reporting movement disorders in CNS TB. Data extraction, quality assessment (Joanna Briggs Institute tools), and thematic synthesis were conducted.</p><p><strong>Results: </strong>Of 36 included studies (91 cases), tremor (27.5%), chorea (26.4%), and dystonia (16.5%) were most prevalent. Tremor predominated in tuberculous meningitis (48.9%), while chorea was common in tuberculomas (42.3%). Lesion location correlated with phenomenology: basal ganglia lesions linked to chorea/dystonia, cerebellar involvement to ataxia. Pathogenesis included meningitis (54.9%), tuberculomas (32.9%), and vasculitis (8.8%). Treatment with anti-tubercular therapy and corticosteroids resulted in complete resolution in 43.9% of cases, but 32.9% showed no improvement. Geographically, South America (61.8%) and Asia (19.7%) reported most cases, with a temporal surge post-2000.</p><p><strong>Conclusion: </strong>TBRMDs are heterogeneous in presentation, linked to lesion location and pathogenic mechanisms. Early recognition, multimodal management, and neuroimaging are critical. Significant variability in diagnostic and reporting standards highlights the need for consensus criteria and prospective studies, particularly in high-burden regions. This review underscores the need of global collaborations to optimize clinical care and advance research in this neglected domain.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020798","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}

{"title":"Enhancing the Applicability and Robustness of a Prognostic Model for Parkinson's Disease: Suggestions for Future Research.","authors":"Kaili Lin, Kuanyu Che, Sheng Li","doi":"10.1002/mdc3.70096","DOIUrl":"https://doi.org/10.1002/mdc3.70096","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045181","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}

{"title":"Fist-Palm Test May Identify Mild Cognitive Impairment and Freezing of Gait in Parkinson's Disease: A Machine Learning Approach.","authors":"Sofia Cuoco, Michela Russo, Carlo Ricciardi, Beatrice D'Arco, Cristiano Sorrentino, Arianna Cappiello, Maria Romano, Francesco Amato, Marco Aiello, Roberto Erro, Marianna Amboni, Paolo Barone","doi":"10.1002/mdc3.70080","DOIUrl":"https://doi.org/10.1002/mdc3.70080","url":null,"abstract":"<p><strong>Background: </strong>Mild cognitive impairment (MCI) and freezing of gait (FOG) are two common symptoms in Parkinson's disease (PD).</p><p><strong>Objectives: </strong>The objectives were to test the strength of association of fist-palm test (FiPaT), a nonverbal motor test, with both MCI and FOG in PD and investigate the predictive ability of FiPaT in the identification of PD patients with MCI or FOG.</p><p><strong>Methods: </strong>We enrolled 74 PD patients: 47 of 74 patients had MCI (PD + MCI), 27 of 74 were cognitively unimpaired (PD-NC), 29 of 74 presented FOG (PD + FOG), and 45 of 74 were without FOG (PD-FOG). We performed univariate statistical analysis, including binary logistic regressions, to determine the variables that distinguish PD + MCI from PD-NC and PD + FOG from PD-FOG. We implemented machine learning algorithms with feature selection, using clinical-demographic features and FiPaT scores as input variables, and the presence of MCI or FOG as features to predict.</p><p><strong>Results: </strong>FiPaT total error and topography errors (P = 0.049 and P = 0.026) significantly discriminated PD + MCI and PD-NC, whereas disease duration (P = 0.039), FiPaT total error (P = 0.026), and attention errors (P = 0.046) significantly discriminated PD + FOG and PD-FOG. Applying machine learning analysis, the models reached an accuracy of 87.4% for MCI and 78.2% for FOG.</p><p><strong>Conclusions: </strong>A worse performance on FiPaT and its subscores is closely related to MCI and FOG in PD. The early identification of MCI and FOG is of particular interest as both are important risk factors for PD dementia. Moreover, the association between FiPaT and FOG strengthens the close relationship between motor system, namely gait, and higher-order cognitive functions.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036470","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}

{"title":"Levodopa-Carbidopa Intestinal Gel in an Outpatient Setting: A 10-Year Experience.","authors":"Alessandro Magliozzi, Nicholas Feugas, Yu Yan Poon, Taline Naranian, Louis Liu, Yvonne Tse, Anthony E Lang, Alfonso Fasano","doi":"10.1002/mdc3.70093","DOIUrl":"https://doi.org/10.1002/mdc3.70093","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981860","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}