Journal of Movement Disorders最新文献

{"title":"Spatiotemporal Gait Parameters in Adults With Premanifest and Manifest Huntington's Disease: A Systematic Review.","authors":"Sasha Browning,&nbsp;Stephanie Holland,&nbsp;Ian Wellwood,&nbsp;Belinda Bilney","doi":"10.14802/jmd.23111","DOIUrl":"10.14802/jmd.23111","url":null,"abstract":"<p><strong>Objective: </strong>To systematically review and critically evaluate literature on spatiotemporal gait deviations in individuals with premanifest and manifest Huntington's Disease (HD) in comparison with healthy cohorts.</p><p><strong>Methods: </strong>We conducted a systematic review, guided by the Joanna Briggs Institute's Manual for Evidence Synthesis and pre-registered with the International Prospective Register of Systematic Reviews. Eight electronic databases were searched. Studies comparing spatiotemporal footstep parameters in adults with premanifest and manifest HD to healthy controls were screened, included and critically appraised by independent reviewers. Data on spatiotemporal gait changes and variability were extracted and synthesised. Meta-analysis was performed on gait speed, cadence, stride length and stride length variability measures.</p><p><strong>Results: </strong>We screened 2,721 studies, identified 1,245 studies and included 25 studies (total 1,088 participants). Sample sizes ranged from 14 to 96. Overall, the quality of the studies was assessed as good, but reporting of confounding factors was often unclear. Meta-analysis found spatiotemporal gait deviations in participants with HD compared to healthy controls, commencing in the premanifest stage. Individuals with premanifest HD walk significantly slower (-0.17 m/s; 95% confidence interval [CI] [-0.22, -0.13]), with reduced cadence (-6.63 steps/min; 95% CI [-10.62, -2.65]) and stride length (-0.09 m; 95% CI [-0.13, -0.05]). Stride length variability was also increased in premanifest cohorts by 2.18% (95% CI [0.69, 3.68]), with these changes exacerbated in participants with manifest disease.</p><p><strong>Conclusion: </strong>Findings suggest individuals with premanifest and manifest HD display significant spatiotemporal footstep deviations. Clinicians could monitor individuals in the premanifest stage of disease for gait changes to identify the onset of Huntington's symptoms.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fd/d4/jmd-23111.PMC10548085.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10338630","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":"Apomorphine Monotherapy for Parkinson's Disease: A Neglected Option?","authors":"Clément Desjardins,&nbsp;Christelle Nilles,&nbsp;David Devos,&nbsp;Emmanuel Roze","doi":"10.14802/jmd.23057","DOIUrl":"10.14802/jmd.23057","url":null,"abstract":"1AP-HP, Salpetriere Hospital, DMU Neuroscience 6, Paris, France 2University Lille, Lille Neuroscience & Cognition, Team DVCD, INSERM UMRS_1172, CHU Lille, Department of Medical Pharmacology, Expert Center of Parkinson’s Disease, LICEND COEN Center, NS-Park/FCRIN Network, France 3Sorbonne University, Paris Brain Institute, INSERM, CNRS, Paris, France LETTER TO THE EDITOR https://doi.org/10.14802/jmd.23057 / J Mov Disord 2023;16(3):328-330 pISSN 2005-940X / eISSN 2093-4939","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/53/jmd-23057.PMC10548076.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9593123","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":"Myorhythmia and Other Movement Disorders in Two Patients With Coronavirus Disease 2019 Encephalopathy.","authors":"Rebecca Hui Min Hoe,&nbsp;Fan Yang,&nbsp;Siew Kit Shuit,&nbsp;Glenn Khai Wern Yong,&nbsp;Ser Hon Puah,&nbsp;Jennifer Sye Jin Ting,&nbsp;Mucheli Sharavan Sadasiv,&nbsp;Thirugnanam Umapathi","doi":"10.14802/jmd.22215","DOIUrl":"https://doi.org/10.14802/jmd.22215","url":null,"abstract":"1Department of Neurology, National Neuroscience Institute (Tan Tock Seng Hospital Campus), Singapore 2Department of General Medicine, Tan Tock Seng Hospital, Singapore 3Department of Respiratory and Critical Care Medicine, Tan Tock Seng Hospital, Singapore 4National Centre for Infectious Diseases, Tan Tock Seng Hospital, Singapore LETTER TO THE EDITOR https://doi.org/10.14802/jmd.22215 / J Mov Disord 2023;16(2):217-220 pISSN 2005-940X / eISSN 2093-4939","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ca/73/jmd-22215.PMC10236011.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9921726","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":"Absence of Alpha-Synuclein Pathology in the Stomach of a Patient With Prodromal Dementia With Lewy Bodies.","authors":"Chaewon Shin,&nbsp;Seong-Ik Kim,&nbsp;Sung-Hye Park,&nbsp;Jung Hwan Shin,&nbsp;Chan Young Lee,&nbsp;Han-Joon Kim,&nbsp;Hyuk-Joon Lee,&nbsp;Seong-Ho Kong,&nbsp;Yun-Suhk Suh,&nbsp;Han-Kwang Yang,&nbsp;Beomseok Jeon","doi":"10.14802/jmd.22219","DOIUrl":"https://doi.org/10.14802/jmd.22219","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/81/eb/jmd-22219.PMC10236024.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9943742","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":"Preservation of Dopamine Transporters in a Patient With Micrographia Due to Cerebral Infarction: A Case Report.","authors":"Yoshito Arakaki,&nbsp;Takeshi Yoshimoto,&nbsp;Hiroyuki Ishiyama,&nbsp;Tomotaka Tanaka,&nbsp;Yorito Hattori,&nbsp;Masafumi Ihara","doi":"10.14802/jmd.23033","DOIUrl":"https://doi.org/10.14802/jmd.23033","url":null,"abstract":"smaller-than-normal","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/12/b0/jmd-23033.PMC10236017.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9567758","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":"Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.","authors":"Sung-Pin Fan,&nbsp;Yih-Chih Kuo,&nbsp;Ni-Chung Lee,&nbsp;Yin-Hsiu Chien,&nbsp;Wuh-Liang Hwu,&nbsp;Yu-Hsuan Huang,&nbsp;Han-I Lin,&nbsp;Tai-Chung Tseng,&nbsp;Tung-Hung Su,&nbsp;Shiou-Ru Tzeng,&nbsp;Chien-Ting Hsu,&nbsp;Huey-Ling Chen,&nbsp;Chin-Hsien Lin,&nbsp;Yen-Hsuan Ni","doi":"10.14802/jmd.22161","DOIUrl":"https://doi.org/10.14802/jmd.22161","url":null,"abstract":"<p><strong>Objective: </strong>aaWilson's disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort.</p><p><strong>Methods: </strong>aaMedical records of WD patients diagnosed from 2006-2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes.</p><p><strong>Results: </strong>aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations.</p><p><strong>Conclusion: </strong>aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ec/4e/jmd-22161.PMC10236021.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9568734","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":"The Clinical Characterization of Blocking Tics in Patients With Tourette Syndrome.","authors":"José Fidel Baizabal-Carvallo,&nbsp;Joseph Jankovic","doi":"10.14802/jmd.22122","DOIUrl":"https://doi.org/10.14802/jmd.22122","url":null,"abstract":"<p><strong>Objective: </strong>Tourette syndrome (TS) is a neurodevelopmental disorder characterized by the presence of motor and phonic tics. Blocking phenomena, characterized by arrests in motor activity causing interruptions in movements or speech, have also been described in patients with TS. In this study, we aimed to characterize the frequency and features of blocking tics in patients with TS.</p><p><strong>Methods: </strong>We studied a cohort of 201 patients with TS evaluated at our movement disorders clinic.</p><p><strong>Results: </strong>We identified 12 (6%) patients with blocking phenomena. Phonic tic intrusion causing speech arrest was the most common (n = 8, 4%), followed by sustained isometric muscle contractions arresting body movements (n = 4, 2%). The following variables were statistically related to blocking phenomena: shoulder tics, leg tics, copropraxia, dystonic tics, simple phonic tics, and number of phonic tics per patient (all p < 0.050). In the multivariate regression, the presence of dystonic tics (p = 0.014) and a higher number of phonic tics (p = 0.022) were associated with blocking phenomena.</p><p><strong>Conclusion: </strong>Blocking phenomena are present in approximately 6% of patients with TS, and the presence of dystonic tics and a higher frequency and number of phonic tics increase the risk for these phenomena.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/57/e8/jmd-22122.PMC10236012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9937818","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":"Potential Benefits and Perils of Incorporating ChatGPT to the Movement Disorders Clinic.","authors":"Andres Deik","doi":"10.14802/jmd.23072","DOIUrl":"10.14802/jmd.23072","url":null,"abstract":"ChatGPT (chat.openai.com; Chat Generative Pre-trained Transformer) is an artificial intelligence (AI) language model created by the AI lab OpenAI (OpenAI Inc., San Francisco, CA, USA) that can generate contextually relevant text on many subjects. ChatGPT understands and answers to natural language input and is trained on massive amounts of text data, including books, articles, and websites.1 Several versions of this Generative Pre-trained Transformer (GPT) have been released (the latest iteration, GPT-4, became public mid-March 2023), and it is now one of the largest language models ever devised. Given its versatility and speed, reports of the application of ChatGPT in healthcare have risen steeply in 2023,2-9 and the fields of neurology10 and movement disorders are not excluded from this revolution.11 In this viewpoint, the potential benefits and shortcomings of integrating ChatGPT to the movement disorders clinic will be discussed, as well as possible future directions.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/f3/jmd-23072.PMC10236019.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9928460","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":"A Brief History of NBIA Gene Discovery.","authors":"Susan J Hayflick","doi":"10.14802/jmd.23014","DOIUrl":"https://doi.org/10.14802/jmd.23014","url":null,"abstract":"<p><p>Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of 'NBIA' disorders or 'neurodegeneration with brain iron accumulation'. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers. With each discovery, the remaining idiopathic disorders could be further stratified by common clinical, radiographic or pathological features to enable the next hunt. This iterative process, along with strong and open collaborations, enabled the discoveries of PANK2, PLA2G6, C19orf12, FA2H, WDR45, and COASY gene mutations as underlying PKAN, PLAN, MPAN, FAHN, BPAN, and CoPAN, respectively. The era of Mendelian disease gene discovery is largely behind us, but the history of these discoveries for the NBIA disorders has not yet been told. A brief history is offered here.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1f/63/jmd-23014.PMC10236010.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9921729","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":"Sex and Gender Influence Urinary Symptoms and Management in Multiple System Atrophy.","authors":"Elke Schipani Bailey,&nbsp;Sara J Hooshmand,&nbsp;Negin Badihian,&nbsp;Paola Sandroni,&nbsp;Eduardo E Benarroch,&nbsp;James H Bower,&nbsp;Phillip A Low,&nbsp;Wolfgang Singer,&nbsp;Elizabeth A Coon","doi":"10.14802/jmd.23016","DOIUrl":"https://doi.org/10.14802/jmd.23016","url":null,"abstract":"<p><strong>Objective: </strong>Multiple system atrophy (MSA) is characterized by urinary dysfunction, yet the influence of sex and gender on urinary symptoms and treatment is unclear. We sought to characterize sex and gender differences in the symptomatology, evaluation, and management of urinary dysfunction in patients with MSA.</p><p><strong>Methods: </strong>Patients with MSA evaluated at our institution were reviewed and stratified by sex.</p><p><strong>Results: </strong>While the prevalence of urinary symptoms was similar in male and female patients, incontinence was more common in females. Despite this, males and females underwent postvoid residual (PVR) measurement at similar rates. While catheterization rates were similar when PVR was measured, males were more than twice as likely to be catheterized than females in the absence of PVR measurement.</p><p><strong>Conclusion: </strong>Urinary symptoms are common in MSA, but their presentation differs between males and females. The difference in catheterization rates may be driven by a gender disparity in referrals for PVR, which can guide treatment.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":3.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7e/e3/jmd-23016.PMC10236018.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9567757","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}