Baikuntha Panigrahi, Divya M Radhakrishnan, Ayush Agarwal, Roopa Rajan, Divyani Garg, Animesh Das, Awadh Kishor Pandit, Achal K Srivastava
{"title":"Juvenile Parkinsonism and Cognitive Impairment in a Patient with Compound Heterozygous Variants in the BTD Gene- an Unusual Presentation of Biotinidase Deficiency.","authors":"Baikuntha Panigrahi, Divya M Radhakrishnan, Ayush Agarwal, Roopa Rajan, Divyani Garg, Animesh Das, Awadh Kishor Pandit, Achal K Srivastava","doi":"10.1002/mdc3.14154","DOIUrl":"10.1002/mdc3.14154","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1291-1294"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141469651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Continuous Subcutaneous Foslevodopa-Foscarbidopa in Parkinson's Disease: A Mini-Review of Current Scope and Future Outlook.","authors":"Mickael Aubignat, Melissa Tir","doi":"10.1002/mdc3.14161","DOIUrl":"10.1002/mdc3.14161","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and non-motor symptoms, primarily because of the impairment of dopaminergic neurons. Long-term use of levodopa, the standard PD treatment, often results in fluctuating therapeutic effects and dyskinesia, necessitating alternative therapies.</p><p><strong>Objectives: </strong>This review aims to synthesize current insights and clinical experiences with foslevodopa-foscarbidopa, focusing on its pharmacokinetics, efficacy, and safety profile, to evaluate its potential in transforming PD therapy.</p><p><strong>Methods: </strong>A systematic literature search was conducted up to November 2023 using databases PubMed, Web of Science, and Cochrane Library. The search yielded eight eligible articles, including pharmacological studies, case reports, observational studies, and controlled trials. No language restrictions were applied.</p><p><strong>Results: </strong>Foslevodopa and foscarbidopa, as prodrugs of levodopa and carbidopa, exhibited excellent chemical stability and solubility, facilitating continuous subcutaneous infusion. Clinical trials demonstrated that these prodrugs maintain stable levodopa levels, thereby addressing the limitations of oral levodopa therapy. Phase 1 and 3 studies indicated significant improvements in motor function and quality of life in advanced PD patients. However, a higher incidence of treatment-emergent adverse events, mainly infusion site reactions, was observed compared to oral therapies.</p><p><strong>Conclusions: </strong>Foslevodopa-foscarbidopa emerges as a promising alternative for advanced PD treatment, offering sustained symptom control. Its efficacy in managing motor fluctuations and dyskinesia makes it a viable option in the PD therapeutic spectrum. Future research should focus on long-term safety, economic impact, and broader accessibility. Foslevodopa-foscarbidopa is now commercially distributed in many countries in Europe and in Japan.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1188-1194"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141580337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Vibrotactile Foot Device for Freezing of Gait in Parkinson's Disease: A Pilot Study.","authors":"Shanshan Cen, Jinghong Ma, Hong Sun, Hui Zhang, Yuan Li, Wei Mao, Erhe Xu, Shanshan Mei, Jagadish K Chhetri, Zheng Ruan, Hui Wang, Kailiang Wang, Piu Chan","doi":"10.1002/mdc3.14177","DOIUrl":"10.1002/mdc3.14177","url":null,"abstract":"<p><strong>Background: </strong>Vibrotactile stimulation has been studied in its efficacy of reducing freezing of gait (FOG) in patients with Parkinson's disease (PD). However, the results are still controversial. We evaluated the efficacy of a newly developed vibrotactile foot device on freezing severity and gait measures in PD patients with FOG.</p><p><strong>Objective: </strong>To evaluate the efficacy of vibrotactile foot device on PD patients with FOG.</p><p><strong>Methods: </strong>Thirty-three PD patients with FOG were examined during their \"off\" medication state. The efficacy of the vibrotactile foot device was evaluated using a gait protocol comprising walking trials with vibrotactile stimulation \"off\" and \"on.\" Walking trials were videotaped for the offline rating by two movement disorder specialists. The Opal inertial sensor unit (128 Hz; Mobility Lab; APDM Inc., Portland, OR, USA) was used for quantitative gait analysis.</p><p><strong>Results: </strong>The results demonstrated 33.1% reduction in number of FOG episodes (P < 0.001) and 32.6% reduction of freezing episodes (P < 0.001). Quantitative gait analysis showed a significant increase in step length (P = 0.033). A moderate negative correlation was observed between the change of percent time frozen and age (r = -0.415, P = 0.016). 73% of participants reported minimal to substantial improvement in walking with this vibrating stimulation delivered by the vibrotactile foot device.</p><p><strong>Conclusions: </strong>The vibrotactile foot device is an efficient device that could significantly reduce freezing severity and provide gait regulation to patients with PD experiencing frequent freezing. It could potentially be used in the home environment for improving the quality of life.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1241-1248"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alina Nazir, Ali Zafar, Edward Jones, Muhammad Awan
{"title":"Vascular Leukoencephalopathy Associated Chorea Due to A Heterozygous Htra 1 Variant: Novel Presentation of Cadasil Type II.","authors":"Alina Nazir, Ali Zafar, Edward Jones, Muhammad Awan","doi":"10.1002/mdc3.14186","DOIUrl":"10.1002/mdc3.14186","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1301-1304"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sai A Nagaratnam, Nimalan Harinesan, Matthew Silsby, Victor S C Fung
{"title":"Unilateral Upper-Limb Tremor Due to C6 Radiculopathy and Demyelinating Neuropathy.","authors":"Sai A Nagaratnam, Nimalan Harinesan, Matthew Silsby, Victor S C Fung","doi":"10.1002/mdc3.14180","DOIUrl":"10.1002/mdc3.14180","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1287-1290"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142109691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Almudena Chacón, Olga Mateo-Sierra, Javier Ricardo Pérez-Sánchez, Beatriz De la Casa-Fages, Francisco Grandas, Pedro De Castro, Concepción Miranda
{"title":"Long-Term Outcomes of GPi Deep Brain Stimulation in a Child with Glutaric Aciduria Type 1 (GA1).","authors":"Almudena Chacón, Olga Mateo-Sierra, Javier Ricardo Pérez-Sánchez, Beatriz De la Casa-Fages, Francisco Grandas, Pedro De Castro, Concepción Miranda","doi":"10.1002/mdc3.14185","DOIUrl":"10.1002/mdc3.14185","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1311-1313"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141917181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nitish Kamble, Vikram V Holla, Pavan Kumar Katragadda, Babylakshmi Muthusamy, Pramod Kumar Pal
{"title":"Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum.","authors":"Nitish Kamble, Vikram V Holla, Pavan Kumar Katragadda, Babylakshmi Muthusamy, Pramod Kumar Pal","doi":"10.1002/mdc3.14152","DOIUrl":"10.1002/mdc3.14152","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1295-1297"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prescription Drug Utilization among Patients with Essential Tremor: A Cross-Sectional Study of More Than 36,000 Patients.","authors":"Kandice A Kapinos, Elan D Louis","doi":"10.1002/mdc3.14155","DOIUrl":"10.1002/mdc3.14155","url":null,"abstract":"<p><strong>Background: </strong>Essential tremor (ET) is a chronic, progressive neurological disease that affects an estimated 7 million individuals in the United States (ie, 2.2% of the entire U.S. population). Despite its high prevalence, there are a few published studies on patterns of prescription medication use among patients.</p><p><strong>Objective: </strong>The aim was to examine prescription drug medication use among ET patients.</p><p><strong>Methods: </strong>This is a cross-sectional study of ET patients, age ≥40, with at least 1 prescription medication fill using the Optum's de-identified Clinformatics Data Mart Database from 2018 through 2019. We examined patterns of fills of key agents used to treat ET.</p><p><strong>Results: </strong>The final sample comprised 36,839 ET patients in the United States; 89% had at least 1 prescription drug claim over a 2-year period, indicating that 9 of 10 ET patients take a medication to treat their disease. For each of the 3 most frequently prescribed medications, only a modest fraction (1/5 to 1/4) of patients were taking that medication. Adherence to these agents was 52% to 61%. A high percentage of patients had fills for more than 1 of the main agents we studied.</p><p><strong>Conclusion: </strong>These data illustrate a need for medication in the ET population. There is only 1 FDA-approved medication to treat ET, propranolol, and less than 25% of ET patients used this drug during our study period. At the same time, no single agent was utilized by more than one quarter of ET patients, adherence was low, and use of multiple agents was common. For such a common disease, the pharmacotherapeutic landscape is impoverished.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"1203-1211"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}