Journal of Movement Disorders最新文献

{"title":"Spastic Paraplegia 82 in Two Asian Indian Siblings With PCYT2 Mutations.","authors":"Anil Dash, Farsana Mustafa, Divyani Garg, Sreeja Samineni, Ayush Agarwal, Ajay Garg, Achal Kumar Srivastava","doi":"10.14802/jmd.24259","DOIUrl":"10.14802/jmd.24259","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"185-189"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143066037","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":"Feasibility of a Multidomain Intervention for Safe Mobility in People With Parkinson's Disease and Recurrent Falls.","authors":"Natalie E Allen, Lina Goh, Colleen G Canning, Catherine Sherrington, Lindy Clemson, Jacqueline Ct Close, Stephen R Lord, Simon J G Lewis, Simone Edwards, Susan Harkness, Roslyn Savage, Lyndell Webster, Genevieve Zelma, Serene S Paul","doi":"10.14802/jmd.24237","DOIUrl":"10.14802/jmd.24237","url":null,"abstract":"<p><strong>Objective: </strong>Mobility limitations and falls are common in people with Parkinson's disease (PwP). Compared with exercise alone, a tailored, multidomain intervention has the potential to be more effective in improving mobility safety and preventing falls. This study aimed to explore the feasibility and potential effectiveness of a multidomain fall prevention intervention (Integrate) designed for PwP who experience frequent falls.</p><p><strong>Methods: </strong>The home-based intervention was delivered over a span of 6 months by occupational therapists and physiotherapists. The personalized intervention included home fall hazard reduction, exercise, and safer mobility behavior training. The participants received 8 to 12 home visits and were supported by care-partners (when necessary) to participate in the intervention.</p><p><strong>Results: </strong>Twenty-nine people (recruitment rate: 49%; drop-out rate: 10%) with moderate to advanced Parkinson's disease, a history of recurrent falls, and mild to moderate cognitive impairment participated in the study, with 26 people completing the study. A moderate-to-high adherence to the intervention was observed, and there were no adverse events related to the intervention. Twenty-one (81%) participants met or exceeded their safer mobility goal based on the Goal Attainment Scale. The participants exhibited a median 1.0-point clinically meaningful improvement according to the Short Physical Performance Battery. An exploratory analysis revealed that fall rates were reduced by almost 50% in the 6-month follow-up period (incidence rate ratio: 0.51; 95% confidence interval 0.28-0.92).</p><p><strong>Conclusion: </strong>A multidomain occupational therapy and physiotherapy intervention for PwP experiencing recurrent falls was feasible and appeared to improve mobility safety. A randomized trial powered to detect the effects of the intervention on falls and mobility is warranted.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"149-159"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639507","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":"Modified Ratio of Tremor/Postural Instability Gait Difficulty Score as an Indicator of Short-Term Outcomes of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease.","authors":"Chakradhar Reddy, Kanchana Pillai, Shejoy Joshua, Anup Nair, Harshad Chavotiya, Manas Chacko, Asha Kishore","doi":"10.14802/jmd.24175","DOIUrl":"10.14802/jmd.24175","url":null,"abstract":"<p><strong>Objective: </strong>The outcomes of motor and nonmotor features of Parkinson's disease (PD) following deep brain stimulation (DBS) vary among its subtypes. We tested whether preoperative motor subtyping using the modified tremor/postural instability and gait difficulty ratio (T/P ratio) could indicate the short-term motor, nonmotor and quality of life (QOL) outcomes of subthalamic nucleus (STN) DBS.</p><p><strong>Methods: </strong>In this prospective study, 39 consecutive STN DBS patients were assessed in the drug-OFF state before surgery and subtyped according to the T/P ratio. Patients were reassessed 6 months after surgery in the stimulation ON-drug-OFF state, and the percentage changes in motor, nonmotor and QOL scores (Parkinson's Disease Quality of Life Questionnaire [PDQ-39]) were calculated.</p><p><strong>Results: </strong>The modified T/P ratio was moderately and positively correlated with the percentage change in the Unified Parkinson's Disease Rating Scale III score in the OFF state, the sum of cardinal motor signs, the Non-Motor Symptom Scale score, and QOL (PDQ-39).</p><p><strong>Conclusion: </strong>Preoperative PD motor subtyping can be used as an indicator of the short-term outcomes of STN DBS in PD patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"165-169"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915083","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":"Validation of the Korean Version of the Huntington's Disease Quality of Life Battery for Carers.","authors":"Hee Jin Chang, Eungseok Oh, Won Tae Yoon, Chan Young Lee, Kyum-Yil Kwon, Yun Su Hwang, Chaewon Shin, Jee-Young Lee","doi":"10.14802/jmd.24217","DOIUrl":"10.14802/jmd.24217","url":null,"abstract":"<p><strong>Objective: </strong>The Huntington's Disease Quality of Life Battery for Carers (HDQoL-C) is used to evaluate caregiver quality of life. This study aimed to develop and validate the Korean version of the HDQoL-C (K-HDQoL-C) to assess the burden on Korean caregivers of Huntington's disease (HD) patients.</p><p><strong>Methods: </strong>A total of 19 HD caregivers (7 females, mean age 55.4±14.6 years) participated in this study. The K-HDQoL-C, a translation of the English version, consisted of demographic information, caring aspects, life satisfaction, and feelings about life. It was administered twice, 2 weeks apart. Internal consistency was evaluated using Cronbach's α, and test-retest reliability was assessed with intraclass correlation coefficients. The relationship with the Zarit Burden Interview-12 (ZBI-12) was analyzed.</p><p><strong>Results: </strong>The internal consistencies of the K-HDQoL-C were 0.771 (part 2), 0.938 (part 3), and 0.891 (part 4). The test-retest reliability ranged from 0.908 to 0.936. Part 3 was negatively correlated with the ZBI-12, and part 4 was positively correlated with the ZBI-12 (r=-0.780, 0.923; p<0.001).</p><p><strong>Conclusion: </strong>The K-HDQoL-C effectively evaluates the challenges faced by HD caregivers, particularly in terms of care aspects and life satisfaction.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"160-164"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903234","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":"Two Cases of Genetically Proven SCARB2-Related Progressive Myoclonic Epilepsy Without Renal Failure: A Report From India.","authors":"Pavankumar Katragadda, Vikram V Holla, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.24222","DOIUrl":"10.14802/jmd.24222","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"175-178"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895377","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":"Early-Onset Cataracts as a Clinical Indicator of DJ-1-Related Parkinsonism.","authors":"Sahil Mehta, Jagdeep Singh, Saurabh Mishra, Vivek Lal","doi":"10.14802/jmd.25016","DOIUrl":"10.14802/jmd.25016","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"193-195"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700665","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":"CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients.","authors":"Divyani Garg, Abhishek Vaingankar, Anu Gupta, Roopa Rajan, Ajay Garg, Ayush Agarwal, Farsana Mustafa, Divya M Radhakrishnan, Awadh Kishor Pandit, Venugopalan Y Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Achal Kumar Srivastava","doi":"10.14802/jmd.25004","DOIUrl":"10.14802/jmd.25004","url":null,"abstract":"<p><strong>Objective: </strong>Colony-stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare adult-onset leukoencephalopathy. Reports of CSF1R-L patients from the Indian subcontinent remain limited. We aimed to report four patients with genetically confirmed CSF1R-L from four Asian Indian families and described their clinical, molecular, and radiological features.</p><p><strong>Methods: </strong>All patients underwent clinical examination, brain magnetic resonance imaging, and whole-exome sequencing to identify causative variants in the CSF1R gene. We also reviewed published reports of Indian patients with CSF1R-L.</p><p><strong>Results: </strong>The age at enrollment ranged from 34 to 40 years. The duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioral syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis was observed in one patient. We identified four different variants (three missense variants and one in-frame deletion). Radiological findings revealed white matter involvement and diffusion restriction involving the subcortical white matter and pyramidal tracts.</p><p><strong>Conclusion: </strong>We expand the literature on CSF1R-L patients from India by reporting four new cases.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"170-174"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433272","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 Association between the Triglyceride-Glucose Index and the Incidence Risk of Parkinson's Disease: A Nationwide Cohort Study.","authors":"Yoonkyung Chang, Ju-Young Park, Ji Young Yun, Tae-Jin Song","doi":"10.14802/jmd.24131","DOIUrl":"10.14802/jmd.24131","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate the associations of the triglyceride-glucose index, which measures insulin resistance, and the incidence of Parkinson's disease.</p><p><strong>Methods: </strong>Our study used the Health Screening Cohort database of the National Health Insurance Service of South Korea (2002-2019). We included 310,021 participants who had no previous history of Parkinson's disease and for whom more than 3 triglyceride-glucose index measurements were available. A diagnosis of Parkinson's disease was determined via the International Classification of Diseases Tenth edition (G20) with a specific reimbursement code for rare intractable diseases and a history of prescriptions for anti-Parkinsonism drugs.</p><p><strong>Results: </strong>During a median of 9.64 years (interquartile range 8.72-10.53), 4,587 individuals (1.5%) had Parkinson's disease. Based on a multivariable time-dependent Cox proportional hazards model, a per-unit increase in triglyceride-glucose index score was associated with a significantly increased risk of Parkinson's disease (hazard ratio [HR]: 1.062; 95% confidence interval [CI] 1.007-1.119). In a sensitivity analysis, the triglyceride-glucose index was associated with the incidence of Parkinson's disease in a non-diabetes mellitus cohort (HR: 1.093; 95% CI 1.025-1.165), but not in the diabetes mellitus cohort (HR: 0.990; 95% CI 0.902-1.087). In a restricted cubic spline analysis, the association between the triglyceride-glucose index and the incidence risk of Parkinson's disease showed a nonlinear increasing (J-shaped) trend.</p><p><strong>Conclusion: </strong>Our study demonstrated that higher triglyceride-glucose index scores were associated with the incidence of Parkinson's disease in the general population, particularly in a nondiabetic mellitus cohort.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"138-148"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515982","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":"Levodopa Pharmacokinetics in Switching From Levodopa/Carbidopa Intestinal Gel to Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion in a Patient With Parkinson's Disease: A Case Report.","authors":"Tomonori Nukariya, Toshiki Tezuka, Shohei Okusa, Ryotaro Okochi, Yuto Sakai, Yoshihiro Nihei, Jin Nakahara, Morinobu Seki","doi":"10.14802/jmd.24247","DOIUrl":"10.14802/jmd.24247","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"179-181"},"PeriodicalIF":2.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061616/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931974","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":"Video-Oculography for Enhancing the Diagnostic Accuracy of Early Oculomotor Dysfunction in Progressive Supranuclear Palsy.","authors":"Harshad Chovatiya, Kanchana Pillai, Chakradhar Reddy, Amiya Thalakkattu, Ayana Avarachan, Manas Chacko, Asha Kishore","doi":"10.14802/jmd.24171","DOIUrl":"10.14802/jmd.24171","url":null,"abstract":"<p><strong>Objective: </strong>Oculomotor impairment is an important diagnostic feature of progressive supranuclear palsy (PSP) and PSP subtypes. We assessed the role of video-oculography (VOG) in confirming clinically suspected slow saccades in PSP and differentiating PSP from Parkinson's disease (PD). We also measured the correlation of both saccadic velocity and latency in PSP patients with scores on the PSP Rating Scale, Montreal Cognitive Assessment, and frontal assessment battery. We assessed the frequency of apraxia of eyelid opening (ALO) and reflex blepharospasm in PSP and PD patients.</p><p><strong>Methods: </strong>A total of 112 PSP patients with slow saccades but not gaze palsy, 50 PD patients, and 50 healthy controls (HCs) were recruited. The Movement Disorders Society task force-PSP and PD criteria were used for the diagnoses. All the subjects underwent VOG.</p><p><strong>Results: </strong>Horizontal and vertical saccadic velocities and latencies differentiated PSP patients from PD patients and HCs (p<0.001). Vertical saccadic velocity and latency accurately differentiated PSP with predominant parkinsonism (PSP-P) patients from PD patients (p<0.001 and 0.012, respectively). A couple of vertical and horizontal saccadic velocities differentiated PSP-Richardson's syndrome (PSP-RS) patients from PSP-P patients (vertical velocity of left eye: p=0.024; horizontal velocity of right eye: p=0.030). In vertical gaze, the mean velocity cutoff showed good sensitivity and specificity in differentiating PSP patients from HCs and PD patients. Prolonged horizontal gaze latency was associated with more severe PSP and worse global cognitive and frontal dysfunction. ALO and reflex blepharospasm were observed only in PSP patients.</p><p><strong>Conclusion: </strong>VOG is useful for confirming slow saccades in PSP-RS and PSP-P patients and for differentiating PSP-P patients from PD patients. Prolonged horizontal gaze latency was associated with more severe PSP and worse cognitive dysfunction. ALO and reflex blepharospasm were observed only in PSP patients.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"77-86"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11824506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794762","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}