Journal of Movement Disorders最新文献

Monitoring cognitive functions during deep brain stimulation (DBS) interventions by Real Time Neuropsychological Testing (DBS-RTNT). 通过实时神经心理测试（DBS-RTNT）监测深部脑刺激（DBS）干预期间的认知功能。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-09-23 DOI: 10.14802/jmd.24102

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

{"title":"Monitoring cognitive functions during deep brain stimulation (DBS) interventions by Real Time Neuropsychological Testing (DBS-RTNT).","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":"https://doi.org/10.14802/jmd.24102","url":null,"abstract":"Objective: We monitored cognition during Deep brain stimulation (DBS) surgery, when the electrode is positioned at the target subthalamic nucleus (i.e., STN motor area) in 14 PD patients.Methods: We present the Real Time Neuropsychological Testing (DBS-RTNT) protocol, our preliminary experience, along with patients' performance comparing intraoperative results with baseline data.Results: Compared to baseline, DBS-RTNT in the target area showed a significantly decreased performance at some tasks belonging to memory and executive functions domains. Significantly decreased short-term memory and sequencing scores were found for right (vs. left) hemisphere DBS-RTNT.Conclusions: PD patients' performance should be monitored during DBS surgery as STN-DBS may induce changes in cognitive performance. These preliminary data contribute to improve, during DBS-surgery the anatomo-functional topography of the STN in order to identify, in future approaches, in the individual patient the best site producing positive motor effects, without causing negative cognitive and/or emotional changes. Medications (i.e., the patients underwent surgery in a levodopa off state) could in principle have influenced our results therefore future studies are needed to address possible confounding effect of levodopa use.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Adjustability of gait speed in clinics and free-living environments in people with Parkinson's disease. 帕金森病患者在诊所和自由生活环境中的步速调节能力。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-09-23 DOI: 10.14802/jmd.24167

Yuki Nishi, Shintaro Fujii, Koki Ikuno, Yuta Terasawa, Shu Morioka

{"title":"Adjustability of gait speed in clinics and free-living environments in people with Parkinson's disease.","authors":"Yuki Nishi, Shintaro Fujii, Koki Ikuno, Yuta Terasawa, Shu Morioka","doi":"10.14802/jmd.24167","DOIUrl":"https://doi.org/10.14802/jmd.24167","url":null,"abstract":"Objective: Gait speed is regulated by varying gait parameters depending on the diverse contexts of the environment. People with Parkinson's disease (PwPD) have difficulty in adapting to gait control in their environment; however, the relationship between gait speed and spatiotemporal parameters in free-living environments has not been clarified. This study aimed to compare gait parameters according to gait speed in clinics and free-living environments.Methods: PwPD were assessed at the clinic and in a free-living environment using an accelerometer on the lower back. By fitting a bimodal Gaussian model to the gait speed distribution, gait speed was divided into lower and higher speeds. We compared the spatiotemporal gait parameters using a 22 (environment [clinic/free-living]  speed [lower/higher]) repeated-measures analysis of variance. Associations between Parkinson's disease symptoms and gait parameters were evaluated using Bayesian Pearson's correlation coefficients.Results: In the 41 PwPD included in this study, spatiotemporal gait parameters were significantly worse in free-living environments than in clinics and at lower speeds than at higher speeds. The fit of the walking speed distribution to the bimodal Gaussian model (adjustability of gait speed) in free-living environments was related to spatiotemporal gait parameters, severity of Parkinson's disease, number of falls, and quality of life.Conclusions: The findings suggest that gait control, which involves adjusting gait speed according to context, differs between clinics and free-living environments in PwPD. Gait assessment for PwPD in both clinical and free-living environments should interpret gait impairments in a complementary manner.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Goal Attainment Scale Refine Patient-Centred Expectations in Botulinum Toxin Treatment of Cervical Dystonia. 目标达成量表完善了肉毒杆菌毒素治疗颈肌张力障碍时以患者为中心的预期。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-09-23 DOI: 10.14802/jmd.24150

Pattamon Panyakaew, Piyanat Wongwan, Roongroj Bhidayasiri

引用次数: 0

Clinico-genetic profile of seven patients with PARK-PINK1: A case series from a tertiary care centre from India and review of literature. 七名 PARK-PINK1 患者的临床遗传学特征：印度一家三级医疗中心的系列病例及文献综述。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-09-19 DOI: 10.14802/jmd.24157

Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod K Pal

{"title":"Clinico-genetic profile of seven patients with PARK-PINK1: A case series from a tertiary care centre from India and review of literature.","authors":"Aravind Gunasekaran, Vikram V Holla, Prashant Phulpagar, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Babylakshmi Muthusamy, Pramod K Pal","doi":"10.14802/jmd.24157","DOIUrl":"https://doi.org/10.14802/jmd.24157","url":null,"abstract":"Background: Recessive variants in the PINK1 gene is a known cause of early-onset Parkinson's disease (EOPD).Objective: To describe the clinical features and genetic profile of patients of PARK-PINK1.Methods: Retrospective chart review of demographic, clinical and genetic details of patients carrying biallelic PINK1 variants from our database.Result: Seven cases were recruited with median age at onset 33 years (Range: 20-49). All had asymmetrical onset, tremor in four, abnormal posturing in two and slowness in one patient. Parkinsonism phenotype was noted in six patients (with dystonia in four) and isolated dystonia in one. Among 6 patients with parkinsonism, five had rest tremor, all had good levodopa-response, and four had motor-fluctuation with choreiform-dyskinesia. Exome-sequencing revealed bi-allelic pathogenic/likely pathogenic variants in all of which five were novel.Conclusion: PARK-PINK1 presents as an EOPD with tremor-predominant phenotype, good levodopa-responsiveness, early motor fluctuation and dyskinesia. We describe five novel variants in PINK1 gene.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effect of positional change on cerebral perfusion in Parkinson's disease with orthostatic hypotension. 体位改变对帕金森病伴正位性低血压患者脑灌注的影响

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-09-09 DOI: 10.14802/jmd.24104

Jae Young Joo, Dallah Yoo, Jae-Myoung Kim, Chaewon Shin, Tae-Beom Ahn

{"title":"Effect of positional change on cerebral perfusion in Parkinson's disease with orthostatic hypotension.","authors":"Jae Young Joo, Dallah Yoo, Jae-Myoung Kim, Chaewon Shin, Tae-Beom Ahn","doi":"10.14802/jmd.24104","DOIUrl":"https://doi.org/10.14802/jmd.24104","url":null,"abstract":"Objective: 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 effect of positional changes on cerebral perfusion in patients with PD and OH.Methods: We enrolled 43 patients, of whom 31 were PD patients and 11 were healthy controls (HC). All subjects underwent the following clinical assessments: OH Questionnaire, head-up tilt test (HUTT) with transcranial Doppler (TCD), near-infrared spectroscopy, measurement of the change in oxygenated hemoglobin (Δ Hboxy) 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 re-standing.Results: 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 Δ Hboxy 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 PD-OH (+) in the left hemisphere.Conclusion: Although TCD demonstrated no significant difference in ΔMFV, the parameters measured by NIRS, such as Δ Hboxy during HUTT and PT during SST, showed significantly increased Δ Hboxy 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.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Journey through ARSACS: Insights from a case series of seven patients - A single centre study and review of Indian cohort. ARSACS 之旅：从七名患者的系列病例中获得的启示--一项单一中心研究和印度队列回顾。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-08-29 DOI: 10.14802/jmd.24154

Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal

{"title":"Journey through ARSACS: Insights from a case series of seven patients - A single centre study and review of Indian cohort.","authors":"Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal","doi":"10.14802/jmd.24154","DOIUrl":"https://doi.org/10.14802/jmd.24154","url":null,"abstract":"Background: In this study we describe the clinical, and investigations profile of 7 cases of autosomal-recessive spastic-ataxia of Charlevoix-Saguenay (ARSACS).Methods: We performed retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed literature for reported cases of ARSACS from India.Result: All seven patients had onset within the first-decade. As per the available data, all had walking difficulty (7/7), spastic-ataxia (7/7), classical neuroimaging findings (7/7), sensory-motor demyelinating polyneuropathy (6/6), abnormal evoked-potentials (5/5) and thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 pathogenic/likely-pathogenic unique variants (6 novel) in SACS gene. Additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.Conclusion: Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142093526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Optimal measuring height and validation of 2D-LiDAR based analysis system for spatiotemporal gait parameters. 基于二维激光雷达的时空步态参数分析系统的最佳测量高度和验证。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-08-21 DOI: 10.14802/jmd.24134

Seungki Woo, Chaewon Shin, Min Young Kim

引用次数: 0

Evidence-based review on symptomatic management of Huntington's disease. 亨廷顿症对症治疗的循证综述。

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2024-08-09 DOI: 10.14802/jmd.24140

Jung Hwan Shin, Hui-Jun Yang, Jong Hyun Ahn, Sungyang Jo, Seok Jong Chung, Jee-Young Lee, Hyun Sook Kim, Manho Kim

引用次数: 0

NBR and GBA Genes Methylation Levels in Peripheral Blood of Parkinson's Patients. 帕金森病患者外周血中 NBR 和 GBA 基因的甲基化水平