Journal of Movement Disorders最新文献

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Barriers to Accessing Deep Brain Stimulation for Parkinson's Disease Patients in Morocco. 摩洛哥帕金森病患者获得深部脑刺激的障碍。
IF 2.5 4区 医学
Journal of Movement Disorders Pub Date : 2025-01-01 Epub Date: 2024-12-09 DOI: 10.14802/jmd.24225
Mohamed Daghi, Abdelhakim Lakhdar, Hicham El Otmani
{"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}
引用次数: 0
Monitoring Cognitive Functions During Deep Brain Stimulation Interventions by Real Time Neuropsychological Testing. 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 : 2024-10-01 Epub 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 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}
引用次数: 0
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. 使用经过验证的阿拉伯语版国王帕金森病疼痛量表和问卷调查帕金森病的疼痛特征:埃及多中心研究。
IF 2.5 4区 医学
Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-06-25 DOI: 10.14802/jmd.24088
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
{"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}
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 : 2024-10-01 Epub 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
{"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}
引用次数: 0
Effect of Positional Changes on Cerebral Perfusion in Parkinson's Disease Patients 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 : 2024-10-01 Epub 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 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}
引用次数: 0
Adjustability of Gait Speed in Clinics and Free-Living Environments for 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 : 2024-10-01 Epub 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 for People With Parkinson's Disease.","authors":"Yuki Nishi, Shintaro Fujii, Koki Ikuno, Yuta Terasawa, Shu Morioka","doi":"10.14802/jmd.24167","DOIUrl":"10.14802/jmd.24167","url":null,"abstract":"<p><strong>Objective: </strong>Gait speed is regulated by varying gait parameters depending on the diverse contexts of the environment. People with Parkinson's disease (PwPD) have difficulty adapting to gait control in their environment; however, the relationships between gait speed and spatiotemporal parameters in free-living environments have not been clarified. This study aimed to compare gait parameters according to gait speed in clinics and free-living environments.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>The findings suggest that gait control, which involves adjusting gait speed according to context, differs between clinics and free-living environments in PwPD. Gait assessments for PwPD in both clinical and free-living environments should interpret gait impairments in a complementary manner.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"416-424"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540547/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ocular Vestibular-Evoked Myogenic Potential Assists in the Differentiation of Multiple System Atrophy From Parkinson's Disease. 眼前庭诱发电位有助于区分多系统萎缩和帕金森病。
IF 2.5 4区 医学
Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-07-09 DOI: 10.14802/jmd.24120
Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Tonghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim
{"title":"Ocular Vestibular-Evoked Myogenic Potential Assists in the Differentiation of Multiple System Atrophy From Parkinson's Disease.","authors":"Keun-Tae Kim, Kyoungwon Baik, Sun-Uk Lee, Euyhyun Park, Chan-Nyoung Lee, Tonghoon Woo, Yukang Kim, Seoui Kwag, Hyunsoh Park, Ji-Soo Kim","doi":"10.14802/jmd.24120","DOIUrl":"10.14802/jmd.24120","url":null,"abstract":"<p><strong>Objective: </strong>Vestibular-evoked myogenic potentials (VEMPs) can help in assessing otolithic neural pathway in the brainstem, which may also contribute to the cardiovascular autonomic function. Parkinson's disease (PD) is associated with altered VEMP responses; however, the associations between VEMP abnormalities and multiple system atrophy (MSA) remain unknown. Therefore, we compared the extent of otolith dysfunction using ocular (oVEMP) and cervical VEMPs between patients with MSA and PD.</p><p><strong>Methods: </strong>We analyzed the clinical features, VEMP, and head-up tilt table test (HUT) findings using the Finometer in 24 patients with MSA and 52 with de novo PD who had undergone neurotologic evaluation at a referral-based university hospital in South Korea from January 2021 to March 2023.</p><p><strong>Results: </strong>MSA was associated with bilateral oVEMP abnormalities (odds ratio [95% confidence interval] = 9.19 [1.77-47.76], p = 0.008). The n1-p1 amplitude was negatively correlated with the Unified Multiple System Atrophy Rating Scale I-II score in patients with MSA (r = -0.571, p = 0.033), whereas it did not correlate with the Movement Disorder Society-Unified Parkinson's Disease Rating Scale-III score in patients with PD (r = -0.051, p = 0.687). The n1 latency was negatively correlated with maximum changes in systolic blood pressure within 15 s during HUT in patients with PD (r = -0.335, p = 0.040) but not in those with MSA (r = 0.277, p = 0.299).</p><p><strong>Conclusion: </strong>Bilaterally abnormal oVEMP responses may indicate the extent of brainstem dysfunction in MSA. oVEMP reflects the integrity of otolith-autonomic interplay, reliably assists in differentiating between MSA and PD, and helps infer clinical decline.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"398-407"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141558902","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}
引用次数: 0
NBR and GBA Gene Methylation Levels in the Peripheral Blood of Parkinson's Disease Patients. 帕金森病患者外周血中 NBR 和 GBA 基因的甲基化水平
IF 2.5 4区 医学
Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-07-22 DOI: 10.14802/jmd.24111
Yagmur Inalkac Gemici, Ahmet Koc
{"title":"NBR and GBA Gene Methylation Levels in the Peripheral Blood of Parkinson's Disease Patients.","authors":"Yagmur Inalkac Gemici, Ahmet Koc","doi":"10.14802/jmd.24111","DOIUrl":"10.14802/jmd.24111","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"456-458"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141734372","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}
引用次数: 0
Potential Psychosis Induced by a Sustained High Plasma Levodopa Concentration Due to Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion in a Patient With Parkinson's Disease: A Case Report. 帕金森病患者通过持续皮下注射磷左多巴/磷卡比多巴,血浆左旋多巴浓度持续升高可能诱发精神病:病例报告。
IF 2.5 4区 医学
Journal of Movement Disorders Pub Date : 2024-10-01 Epub Date: 2024-06-28 DOI: 10.14802/jmd.24114
Toshiki Tezuka, Tomonori Nukariya, Yuta Kizuka, Shohei Okusa, Ryotaro Okochi, Yuto Sakai, Yoshihiro Nihei, Jin Nakahara, Morinobu Seki
{"title":"Potential Psychosis Induced by a Sustained High Plasma Levodopa Concentration Due to Continuous Subcutaneous Foslevodopa/Foscarbidopa Infusion in a Patient With Parkinson's Disease: A Case Report.","authors":"Toshiki Tezuka, Tomonori Nukariya, Yuta Kizuka, Shohei Okusa, Ryotaro Okochi, Yuto Sakai, Yoshihiro Nihei, Jin Nakahara, Morinobu Seki","doi":"10.14802/jmd.24114","DOIUrl":"10.14802/jmd.24114","url":null,"abstract":"","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"453-455"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141468646","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}
引用次数: 0
Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an 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 : 2024-10-01 Epub 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 Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an 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":"10.14802/jmd.24154","url":null,"abstract":"<p><strong>Objective: </strong>In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).</p><p><strong>Methods: </strong>We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.</p><p><strong>Results: </strong>All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients 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 a thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 unique pathogenic/likely pathogenic variants (6 novel) in the SACS gene. An 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.</p><p><strong>Conclusion: </strong>Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.</p>","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":"430-435"},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540545/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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