Journal of Clinical Movement Disorders最新文献

{"title":"A case of Gerstmann-Straussler-Scheinker (GSS) disease with supranuclear gaze palsy.","authors":"Nicole A Ufkes,&nbsp;Craig Woodard,&nbsp;Marian L Dale","doi":"10.1186/s40734-019-0082-1","DOIUrl":"https://doi.org/10.1186/s40734-019-0082-1","url":null,"abstract":"<p><strong>Background: </strong>Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. We present a member of the GSS Indiana Kindred with supranuclear palsy, a less common feature in GSS.</p><p><strong>Case presentation: </strong>A 42-year-old man presented with 12 months of progressive gait and balance difficulty. Exam was notable for ataxia and cerebellar eye movement abnormalities. Genetic testing revealed a F198S variant in the prion protein (PRNP) gene, the pathological variant of GSS associated with his family, the Indiana kindred. Eighteen months after initial presentation supranuclear palsy developed.</p><p><strong>Conclusions: </strong>GSS is a neurodegenerative prion disease with diverse clinical presentations, and exhibits greater variability in disease phenotype compared to other inherited spongiform encephalopathies. GSS should be on the differential for patients with ataxia and supranuclear palsy, and it is important to assess both horizontal and vertical saccades and optokinetic nystagmus in patients with ataxia.</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"6 ","pages":"7"},"PeriodicalIF":0.0,"publicationDate":"2019-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40734-019-0082-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37501809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Feasibility and utility of a simple computerized test for measuring saccade latency in progressive supranuclear palsy- a proof-of-concept study\".","authors":"Marian L Dale,&nbsp;Emmi P Scott,&nbsp;Saher Khalid,&nbsp;Andrew S Eiseman,&nbsp;Travis H Turner","doi":"10.1186/s40734-019-0081-2","DOIUrl":"https://doi.org/10.1186/s40734-019-0081-2","url":null,"abstract":"<p><strong>Background: </strong>Reliable detection of slowed vertical saccades may help discriminate progressive supranuclear palsy (PSP) from the subset of Parkinson's disease patients who lack tremor (akinetic-rigid or PD-postural instability and gait disorder PIGD subtype), and from age-related oculomotor changes. We investigated the feasibility of a camera-less computerized behavioral saccade latency paradigm previously validated in PD to discriminate probable PSP-Richardson syndrome (PSP-RS) from PD-PIGD and age-matched controls.</p><p><strong>Methods: </strong>In this proof-of-concept case-control study, reflexive saccade latencies were measured in 5 subjects with probable PSP-RS, 5 subjects with PD-PIGD subtype, and 5 age-matched controls using the behavioral paradigm. The battery was repeated approximately one month later. All subjects were examined off levodopa by a movement disorders neurologist and by an ophthalmologist, who also performed a dilated eye exam.</p><p><strong>Results: </strong>Vertical prosaccade latencies were longer in the PSP group (median = 903 ms) relative to PD (median = 268 ms) and control groups (median = 235 ms), with no overlap between groups (100% accuracy). PSP subjects also had larger vertical-horizontal discrepancies than comparison groups. Test-retest reliability for the behavioral saccade measures was good (interclass correlation coefficient = 0.948; 95% confidence interval [0.856, 0.982]), and the measures strongly correlated with clinical ratings.</p><p><strong>Conclusions: </strong>Computerized behavioral measurement of reflexive saccade latency is feasible in PSP, and potentially discriminates probable PSP-RS from the PD-PIGD subtype. Findings from this proof-of-concept study support utility of the approach for obtaining objective saccade metrics in clinical evaluations and for tracking change in future, larger trials of moderately advanced PSP. Future studies should also examine the behavioral paradigm in earlier presentations of PSP and other subtypes of PSP.</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"6 ","pages":"6"},"PeriodicalIF":0.0,"publicationDate":"2019-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40734-019-0081-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37463955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tongue involvement in embouchure dystonia: new piloting results using real-time MRI of trumpet players","authors":"Soenke J. Hellwig, P. Iltis, Arun A. Joseph, Dirk Voit, J. Frahm, E. Schoonderwaldt, E. Altenmüller","doi":"10.1186/s40734-019-0080-3","DOIUrl":"https://doi.org/10.1186/s40734-019-0080-3","url":null,"abstract":"","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"91 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77268412","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":"Publisher Correction to: Journal of Clinical Movement Disorders, volume 6","authors":"Journal of Clinical Movement Disorders","doi":"10.1186/s40734-019-0079-9","DOIUrl":"https://doi.org/10.1186/s40734-019-0079-9","url":null,"abstract":"","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"94 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74828315","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":"Huntington’s disease: a forensic risk factor in women","authors":"E. Chu, M. O'Neill, Debasish Das Purkayastha, C. Knight","doi":"10.1186/s40734-019-0078-x","DOIUrl":"https://doi.org/10.1186/s40734-019-0078-x","url":null,"abstract":"","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"24 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79065775","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":"Telepsychiatry for patients with movement disorders: a feasibility and patient satisfaction study.","authors":"Andreea L Seritan,&nbsp;Melissa Heiry,&nbsp;Ana-Maria Iosif,&nbsp;Michael Dodge,&nbsp;Jill L Ostrem","doi":"10.1186/s40734-019-0077-y","DOIUrl":"https://doi.org/10.1186/s40734-019-0077-y","url":null,"abstract":"<p><strong>Background: </strong>Telemedicine is a convenient health service delivery modality for patients with movement disorders, including Parkinson's disease (PD), but is currently underutilized in the management of associated psychiatric symptoms. This study explored the feasibility of and patient satisfaction with telepsychiatry services at an academic movement disorders center.</p><p><strong>Methods: </strong>All patients seen by telepsychiatry between January and December 2017 at the UCSF Movement Disorders and Neuromodulation Center were invited to participate. Participation was voluntary. Patients received an initial survey after the first telepsychiatry visit and satisfaction surveys after each visit. Survey responses were collected online via Research Electronic Data Capture (REDCap). Frequencies were calculated for categorical variables, and means and standard deviations were generated for continuous variables.</p><p><strong>Results: </strong>Thirty-three patients (79% with PD; 72% Medicare recipients; 64% men; mean age, 61.1 ± 10.5 years; mean distance to clinic, 79.9 ± 81.3 miles) completed a total of 119 telepsychiatry and 62 in-person visits. Twenty-two initial surveys and 50 satisfaction surveys (from 21 patients) were collected. Patients were very satisfied with the care (95%), convenience (100%), comfort (95%), and overall visit (95%). Technical quality was somewhat lower rated, with 76% patients reporting they were very satisfied, while 19% were satisfied. All patients would recommend telemedicine to friends or family members.</p><p><strong>Conclusions: </strong>Telepsychiatry is a feasible option for patients with movement disorders, leading to high patient satisfaction and improved access to care. Technical aspects still need optimization. Whenever available, telepsychiatry can be considered in addition to in-person visits. Future studies with larger samples should explore its impact on patient care outcomes and caregiver burden.</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"6 ","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2019-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40734-019-0077-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37320185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcranial magnetic stimulation therapy for focal leg dystonia: a case report.","authors":"Kush Sharma,&nbsp;Alberto Cucca,&nbsp;Andrea Lee,&nbsp;Shashank Agarwal,&nbsp;Steven Joel Frucht,&nbsp;Milton Cesar Biagioni","doi":"10.1186/s40734-019-0076-z","DOIUrl":"https://doi.org/10.1186/s40734-019-0076-z","url":null,"abstract":"<p><strong>Background: </strong>Dystonia is a debilitating disease that causes abnormal, often repetitive, movements, postures or both. The pathophysiology is unknown but related to loss of neuronal inhibition, aberrant sensorimotor integration, and/or derangements of synaptic plasticity. Current treatments include pharmacotherapy, botulinum toxin injections and deep brain stimulation (DBS). The response to these treatments are often limited and carry the risk of side effects requiring alternative therapies such as non-invasive brain stimulation.</p><p><strong>Case presentation: </strong>We present a case report of a 65-year -old man with refractory focal 'task-specific' dystonia. The treatment plan included 10-daily sessions of 1 Hz, 2600 pulses of repetitive transcranial magnetic stimulation (rTMS) targeting the primary motor cortex.</p><p><strong>Conclusion: </strong>There were no clinical benefits noticed. Currently, there are no rTMS protocol treatments for dystonia. Publication of negative results will help in refining the optimal stimulation parameters, thus maximizing the effectiveness and reproducibility of future therapeutic protocols.</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"6 ","pages":"1"},"PeriodicalIF":0.0,"publicationDate":"2019-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40734-019-0076-z","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37080020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: Medical treatment of dystonia.","authors":"Pichet Termsarasab,&nbsp;Thananan Thammongkolchai,&nbsp;Steven J Frucht","doi":"10.1186/s40734-018-0075-5","DOIUrl":"https://doi.org/10.1186/s40734-018-0075-5","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1186/s40734-016-0047-6.].</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"5 ","pages":"8"},"PeriodicalIF":0.0,"publicationDate":"2018-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40734-018-0075-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36720249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of vitamin D supplementation and clinical outcomes in a large cohort of early Parkinson's disease.","authors":"Nijee S Luthra, Soeun Kim, Yunxi Zhang, Chadwick W Christine","doi":"10.1186/s40734-018-0074-6","DOIUrl":"10.1186/s40734-018-0074-6","url":null,"abstract":"<p><strong>Background: </strong>Vitamin D (VitD) deficiency is common in Parkinson's disease (PD) and has been raised as a possible PD risk factor. In the past decade, VitD supplementation for potential prevention of age related conditions has become more common. In this study, we sought to characterize VitD supplementation in early PD and determine as an exploratory analysis whether baseline characteristics or disease progression differed according to reported VitD use.</p><p><strong>Methods: </strong>We analyzed data from the National Institutes of Health Exploratory Trials in Parkinson's Disease (NET-PD) Long-term study (LS-1), a longitudinal study of 1741 participants. Subjects were divided into following supplement groups according to subject exposure (6 months prior to baseline and during the study): no VitD supplement, multivitamin (MVI), VitD ≥400 IU/day, and VitD + multivitamin (VitD+MVI). Clinical status was followed using the Unified Parkinson's Disease Rating Scale, Symbol Digit Modalities Test, total daily levodopa equivalent dose, and Parkinson's Disease Questionnaire.</p><p><strong>Results: </strong>About 5% of subjects took VitD alone, 7% took VitD+MVI, 34% took MVI alone, while 54% took no supplement. Clinical outcomes at 3 years were similar across all groups.</p><p><strong>Conclusion: </strong>This study shows VitD supplementation ≥400 IU/day was not common in early PD and that its use was similar to that seen in the US population. At 3 years, there was no difference in disease progression according to vitamin D supplement use.</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"5 ","pages":"7"},"PeriodicalIF":0.0,"publicationDate":"2018-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36649168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SCA2 presenting as a focal dystonia.","authors":"Nan Cheng,&nbsp;Heather M Wied,&nbsp;James J Gaul,&nbsp;Lauren E Doyle,&nbsp;Stephen G Reich","doi":"10.1186/s40734-018-0073-7","DOIUrl":"10.1186/s40734-018-0073-7","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in <i>ATXN2</i> on chromosome 12q24. Patients present with adult-onset progressive gait ataxia, slow saccades, nystagmus, dysarthria and peripheral neuropathy. Dystonia is known to occur as SCA2 advances, but is rarely the presenting symptom.</p><p><strong>Case presentation: </strong>A 43-year-old right handed woman presented with focal dystonia of the right hand which started two years earlier with difficulty writing. There were only mild cerebellar signs. Her mother was reported to have a progressive gait disorder and we subsequently learned that she had SCA2. A total of 10 maternal family members were similarly affected. Over the course of 10 years, the patient's cerebellar signs progressed only mildly however the dystonia worsened to the extent of inability to use her right hand. Dystonia did not improve significantly with botulinum toxin, levodopa or trihexyphenidyl, but has shown marked improvement since DBS implantation in the GPi.</p><p><strong>Conclusions: </strong>We describe a patient with SCA2 who presented with focal dystonia of the right upper extremity. Subtle cerebellar signs as well as the family history became especially important given the absence of predominant gait ataxia. Our case emphasizes that focal dystonia is not only a feature of SCA2, but can also rarely be the presenting sign as well as the most prominent feature during the disease course.</p>","PeriodicalId":15374,"journal":{"name":"Journal of Clinical Movement Disorders","volume":"5 ","pages":"6"},"PeriodicalIF":0.0,"publicationDate":"2018-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40734-018-0073-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36410567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}