Journal of Movement Disorders最新文献

{"title":"A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington's Disease in Korea.","authors":"Jangsup Moon, Eungseok Oh, Minkyeong Kim, Ryul Kim, Dallah Yoo, Chaewon Shin, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon","doi":"10.14802/jmd.24232","DOIUrl":"10.14802/jmd.24232","url":null,"abstract":"<p><p>This review provides a comprehensive framework for the diagnostic approach and management of Huntington's disease (HD) tailored to the Korean population. Key topics include genetic counseling, predictive testing, and reproductive options like preimplantation genetic testing. Strategies for assessing disease progression in premanifest HD through laboratory investigations, biofluid, and imaging biomarkers are highlighted. Special considerations for juvenile and late-onset HD, along with associated comorbidities like diabetes mellitus, hypertension, and cardiovascular abnormalities, are discussed. The guide emphasizes personalized symptom management, including pharmacotherapy, physical therapy, and nutritional support, while exploring emerging disease-modifying treatments. A multidisciplinary care model is advocated to improve outcomes for HD patients and caregivers in Korea.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"17-30"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895364","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":"Spatiotemporal Gait Parameters During Turning and Imbalance in Parkinson's Disease: Video-Based Analysis From a Single Camera.","authors":"HoYoung Jeon, Jung Hwan Shin, Ri Yu, Min Kyung Kang, Seungmin Lee, Seoyeon Kim, Bora Jin, Kyung Ah Woo, Han-Joon Kim, Beomseok Jeon","doi":"10.14802/jmd.24210","DOIUrl":"10.14802/jmd.24210","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to objectively evaluate turning gait parameters in Parkinson's disease (PD) patients using 2D-RGB video-based analysis and explore their relationships with imbalance.</p><p><strong>Methods: </strong>We prospectively enrolled PD patients for clinical assessment, balance analysis and gait with 180º turning. Spatiotemporal gait parameters during turning were derived using video-based analysis and correlated with modified Hoehn and Yahr (mHY) stages and center of pressure (COP) oscillations.</p><p><strong>Results: </strong>A total of 64 PD patients were enrolled. The PD patients with higher mHY stages (≥2.5) had significantly longer turning times, greater numbers of steps, wider step bases and less variability in step length during turns. COP oscillations were positively correlated with the mean turning time on both the anterior-posterior and right-left axes.</p><p><strong>Conclusion: </strong>Spatiotemporal gait parameter during turning, derived from video-based gait analysis, may represent apromising biomarker for monitoring postural instability in PD patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"87-92"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877316","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":"Polysomnographic Evaluation of Sleep Disorders in Essential Tremor and Essential Tremor Plus: A Comparison With Healthy Controls.","authors":"Ravi Prakash Singh, Mythirayee S, Doniparthi Venkata Seshagiri, Gulshan Kumar, Rohan Mohale, Pramod Kumar Pal, Bindu M Kutty, Jitender Saini, Nitish L Kamble, Vikram Holla, Ravi Yadav","doi":"10.14802/jmd.24191","DOIUrl":"10.14802/jmd.24191","url":null,"abstract":"<p><strong>Objective: </strong>To explore sleep patterns in individuals with essential tremor (ET) and essential tremor plus (ET-Plus) compared with healthy controls and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.</p><p><strong>Methods: </strong>We conducted a prospective cross-sectional study at National Institute of Mental Health and Neurosciences, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using The Essential Tremor Rating Assessment Scale (TETRAS) and Fahn-Tolosa-Marin Clinical Rating Scale (FTMRS). Sleep symptoms were assessed via the Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Mayo Sleep Questionnaire, restless legs syndrome questionnaire, Berlin questionnaire, Generalized Anxiety Disorder Scale 7, and Patient Health Questionnaire-9. All patients and controls underwent overnight video PSG. Sleep scoring was manually performed by a trained sleep research technician and the first author following the American Academy of Sleep Medicine (2017) guidelines, with data analyzed using R studio.</p><p><strong>Results: </strong>Compared with ET-Plus patients, ET patients had a younger onset age (46.8±11.1 years versus 30.8±16.7 years, respectively). Compared with ET patients, ET-Plus patients had higher TETRAS and FTMRS scores (p<0.005). Compared with controls, both ET patients and ET-Plus patients presented poorer sleep quality, excessive daytime sleepiness, rapid eye movement (REM) sleep behavior disorder, and restless legs syndrome symptoms. PSG findings supported these clinical observations, showing an elevated apnea‒hypopnea index, reduced total sleep time, prolonged REM latency, decreased sleep efficiency, increased N1 stage duration, and reduced N2/N3 durations and percentages in patients versus controls.</p><p><strong>Conclusion: </strong>The study highlights significant sleep architecture abnormalities in both ET and ET-Plus patients compared with healthy controls, with no differences between the ET groups.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"45-54"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522154","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":"Eye Movement and Gait Variability Analysis in Chinese Patients With Huntington's Disease.","authors":"Shu-Xia Qian, Yu-Feng Bao, Xiao-Yan Li, Yi Dong, Zhi-Ying Wu","doi":"10.14802/jmd.24151","DOIUrl":"10.14802/jmd.24151","url":null,"abstract":"<p><strong>Objective: </strong>Huntington's disease (HD) is characterized by motor, cognitive, and neuropsychiatric symptoms. Oculomotor impairments and gait variability have been independently considered as potential markers in HD. However, an integrated analysis of eye movement and gait is lacking. We performed multiple examinations of eye movement and gait variability in HTT mutation carriers, analyzed the consistency between these parameters and clinical severity, and then examined the associations between oculomotor impairments and gait deficits.</p><p><strong>Methods: </strong>We included 7 patients with pre-HD, 30 patients with HD and 30 age-matched controls. We collected demographic data and assessed the Unified Huntington's Disease Rating Scale (UHDRS) score. Examinations, including saccades, smooth pursuit tests, and optokinetic (OPK) tests, were performed to evaluate eye movement function. The parameters of gait include stride length, walking velocity, step deviation, step length, and gait phase.</p><p><strong>Results: </strong>HD patients have significant impairments in the latency and velocity of saccades, the gain of smooth pursuit, and the gain and slow phase velocities of OPK tests. Only the speed of saccades significantly differed between pre-HD patients and controls. There are significant impairments in stride length, walking velocity, step length, and gait phase in HD patients. The parameters of eye movement and gait variability in HD patients were consistent with the UHDRS scores. There were significant correlations between eye movement and gait parameters.</p><p><strong>Conclusion: </strong>Our.</p><p><strong>Results: </strong>show that eye movement and gait are impaired in HD patients and that the speed of saccades is impaired early in pre-HD. Eye movement and gait abnormalities in HD patients are significantly correlated with clinical disease severity.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"65-76"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794758","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":"Non-Motor Fluctuations in Parkinson's Disease: Underdiagnosed Yet Important.","authors":"Iro Boura, Karolina Poplawska-Domaszewicz, Cleanthe Spanaki, Rosabel Chen, Daniele Urso, Riaan van Coller, Alexander Storch, Kallol Ray Chaudhuri","doi":"10.14802/jmd.24227","DOIUrl":"10.14802/jmd.24227","url":null,"abstract":"<p><p>Non-motor fluctuations (NMFs) in Parkinson's disease (PD) significantly affect patients' well-being. Despite being identified over two decades ago, NMFs remain largely underrecognized, undertreated, and poorly understood. While they are often temporally associated with motor fluctuations (MFs) and can share common risk factors and pathophysiologic mechanisms, NMFs and MFs are currently considered distinct entities. The prevalence and severity of NMFs, often categorized into neuropsychiatric, sensory, and autonomic subtypes, vary significantly across studies due to the heterogeneous PD populations screened and the diverse evaluation tools applied. The consistent negative impact of NMFs on PD patients' quality of life underscores the importance of further investigations via focused and controlled studies, validated assessment instruments and novel digital technologies. High-quality research is essential to illuminate the complex pathophysiology and clinical nuances of NMFs, ultimately enhancing clinicians' diagnostic and treatment options in routine clinical practice.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"1-16"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864470","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":"Barriers to Accessing Deep Brain Stimulation for Parkinson's Disease Patients in Morocco.","authors":"Mohamed Daghi, Abdelhakim Lakhdar, Hicham El Otmani","doi":"10.14802/jmd.24225","DOIUrl":"10.14802/jmd.24225","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"106-107"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794742","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":"Monitoring Cognitive Functions During Deep Brain Stimulation Interventions by Real Time Neuropsychological Testing.","authors":"Ilaria Guarracino, Christian Lettieri, Massimo Mondani, Stanislao D'Auria, Giovanni Sciacca, Flavia Lavezzi, Miran Skrap, Serena D'Agostini, Gian Luigi Gigli, Mariarosaria Valente, Barbara Tomasino","doi":"10.14802/jmd.24102","DOIUrl":"10.14802/jmd.24102","url":null,"abstract":"<p><strong>Objective: </strong>We monitored cognition in 14 Parkinson's disease (PD) patients during deep brain stimulation (DBS) surgery when the electrode was positioned at the target subthalamic nucleus (STN) (i.e., the STN motor area).</p><p><strong>Methods: </strong>We present the DBS-real-time neuropsychological testing (DBS-RTNT) protocol and our preliminary experience with it; we also compared the intraoperative patient performance with the baseline data.</p><p><strong>Results: </strong>Compared with the baseline data, patients undergoing DBS-RTNT in the target area demonstrated a significantly decreased performance on some tasks belonging to the memory and executive function domains. Patients undergoing right hemisphere DBS-RTNT had significantly lower short-term memory and sequencing scores than did patients undergoing left hemisphere DBS-RTNT.</p><p><strong>Conclusion: </strong>PD patient cognitive performance should be monitored during DBS surgery, as STN-DBS may induce changes. These preliminary data contribute to improving our understanding of the anatomo-functional topography of the STN during DBS surgery, which will enable the identification of the best site for producing positive motor effects without causing negative cognitive and/or emotional changes in individual patients in the future. In principle, medications (i.e., patients who underwent surgery in a levodopa-off state) could have influenced our results; therefore, future studies are needed to address the possible confounding effects of levodopa use.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"442-446"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307913","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":"Pain Characteristics of Parkinson's Disease Using Validated Arabic Versions of the King's Parkinson's Disease Pain Scale and Questionnaire: A Multicenter Egyptian Study.","authors":"Ali Shalash, Salma R Mohamed, Marwa Y Badr, Shimaa Elgamal, Shaimaa A Elaidy, Eman A Elhamrawy, Hayam Abdel-Tawab, Haidy Elshebawy, Heba Samir Abdelraheem, Tamer Roushdy, Wafik S Bahnasy, Haitham H Salem, Ehab A El-Seidy, Hatem S Shehata, Hazem Marouf, K Ray Chaudhuri, Eman Hamid","doi":"10.14802/jmd.24088","DOIUrl":"10.14802/jmd.24088","url":null,"abstract":"<p><strong>Objective: </strong>Pain is one of the most common nonmotor symptoms in Parkinson's disease (PD), with variable characteristics among populations. This multicenter Egyptian study aimed to translate and validate the King's Parkinson's Disease Pain Scale (KPPS) and Questionnaire (KPPQ) into Arabic versions and to investigate the pain characteristics in Egyptian people with PD (PWP).</p><p><strong>Methods: </strong>A total of 192 PWP and 100 sex- and age-matched controls were evaluated by the KPPS-Arabic and KPPQ-Arabic. Both tools were assessed for test-retest reliability, floor or ceiling effects, construct validity and convert validity. PWP were also assessed by the Movement Disorders Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Hoehn and Yahr scale (H&Y), Non-Motor Symptom Scale (NMSS), PD Questionnaire-39, and Non-Motor Fluctuation Assessment (NoMoFA).</p><p><strong>Results: </strong>The KPPS-Arabic and KPPQ-Arabic showed inter- and intrarater consistency and high validity, with an acceptable ceiling effect. A total of 188 PWP (97.9%) reported at least 1 type of pain (p < 0.001). The severity and prevalence of all pain domains in the KPPS-Arabic were significantly higher among PWP than among controls (p < 0.001). Fluctuation-related and musculoskeletal pains were the most common (81.3% and 80.7%, respectively). In the PD group, the total and domains of KPPS-Arabic were significantly correlated to the MDS-UPDRS total score and the scores of Parts I, II, III, postural instability gait disorder, axial, and H&Y but not with age or age of onset. The predictors of KPPS-Arabic scores included the total MDS-UPDRS, the part III-OFF, disease duration, the total NMSS, and the NoMoFA scores.</p><p><strong>Conclusion: </strong>The current multicenter study provided validated Arabic versions of the KPPS and KPPQ, which exhibited high reliability and validity, and demonstrated a high prevalence and severity of pain within Egyptian PWP and characterized its determinants.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"387-397"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446312","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":"Evidence-Based Review on Symptomatic Management of Huntington's Disease.","authors":"Jung Hwan Shin, Hui-Jun Yang, Jong Hyun Ahn, Sungyang Jo, Seok Jong Chung, Jee-Young Lee, Hyun Sook Kim, Manho Kim","doi":"10.14802/jmd.24140","DOIUrl":"10.14802/jmd.24140","url":null,"abstract":"<p><p>Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive impairments and significant impacts on patient quality of life. This evidence-based review, conducted by the Korean Huntington Disease Society task force, systematically examines current pharmacological and nonpharmacological interventions for symptomatic management of HD. Following PRISMA guidelines, databases were searched for studies up to August 2022 that focused on 23 symptoms across four domains: motor, neuropsychological, cognition, and others. This review provides a comprehensive and systematic approach to the management of HD, highlighting the need for more high-quality clinical trials to develop robust evidence-based guidelines.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"369-386"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906817","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":"Effect of Positional Changes on Cerebral Perfusion in Parkinson's Disease Patients With Orthostatic Hypotension.","authors":"Jae Young Joo, Dallah Yoo, Jae-Myoung Kim, Chaewon Shin, Tae-Beom Ahn","doi":"10.14802/jmd.24104","DOIUrl":"10.14802/jmd.24104","url":null,"abstract":"<p><strong>Objective: </strong>Orthostatic hypotension (OH) is one of the most common autonomic dysfunctions in Parkinson's disease (PD) patients. However, many patients with OH are asymptomatic. Conversely, orthostatic dizziness (OD) is not always associated with OH. We investigated the effects of positional changes on cerebral perfusion in patients with PD and OH.</p><p><strong>Methods: </strong>We enrolled 42 patients, comprising 31 PD patients and 11 healthy controls. All the subjects underwent the following clinical assessments: the OH questionnaire, head-up tilt test (HUTT) with transcranial Doppler (TCD), near-infrared spectroscopy, measurement of the change in oxygenated hemoglobin (ΔHboxy) during the squat-to-stand test (SST), measurement of the time derivative of total hemoglobin (DHbtot), and time taken to reach the peak (peak time [PT]) of DHbtot after restanding.</p><p><strong>Results: </strong>The mean flow velocity change (ΔMFV) in the TCD during the HUTT failed to differentiate between the PD-OH(+) and PD-OH(-) groups. The change in oxygenated hemoglobin ΔHboxy was greater in the PD-OH(+) group, which persisted for 9 min until the end of the HUTT only in the left hemisphere. During SST, PT was significantly delayed in the left hemisphere in PD-OH(+) patients.</p><p><strong>Conclusion: </strong>Although TCD demonstrated no significant difference in ΔMFV, the parameters measured by near-infrared spectroscopy, such as ΔHboxy during HUTT and PT during the SST, significantly increased ΔHboxy or delayed PT in the left hemisphere of PD-OH(+). Positional changes have a detrimental effect on cerebral hemodynamics in patients with PD and OH, especially in the left hemisphere.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"408-415"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154371","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}