Clinical Parkinsonism Related Disorders最新文献

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Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism 吞咽困难是 X 连锁肌张力障碍-帕金森病患者营养不良的风险因素之一
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100282
Tabitha H. Kao , Perman Gochyyev , Nutan Sharma , Jan K. de Guzman , Melanie Supnet Wells , Patrick Acuna , Shasha Li , Hannah P. Rowe , Bridget J. Perry
{"title":"Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism","authors":"Tabitha H. Kao ,&nbsp;Perman Gochyyev ,&nbsp;Nutan Sharma ,&nbsp;Jan K. de Guzman ,&nbsp;Melanie Supnet Wells ,&nbsp;Patrick Acuna ,&nbsp;Shasha Li ,&nbsp;Hannah P. Rowe ,&nbsp;Bridget J. Perry","doi":"10.1016/j.prdoa.2024.100282","DOIUrl":"10.1016/j.prdoa.2024.100282","url":null,"abstract":"<div><h3>Introduction</h3><div>Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines. Difficulty swallowing has been linked to malnutrition in other populations; however, knowledge of this relationship is limited in XDP. As such, the purpose of this study was to determine the association between dysphagia and malnutrition in this population.</div></div><div><h3>Method(s)</h3><div>21 individuals with XDP, 26 controls, and 18 genetic carriers were included in the final data analysis. Spearman’s rank order correlation coefficient was used to determine an association between baseline EAT-10 total scores and 12-month malnutrition status, and multiple linear regression to evaluate the predictive ability of the EAT-10. A baseline EAT-10 score cut-off point predicting 12-month malnutrition status was estimated.</div></div><div><h3>Results</h3><div>For the XDP group, the baseline EAT-10 total scores had a significant negative correlation (<em>r</em> = -0.68, <em>p</em> &lt; 0.001) with and was a significant predictor (<em>p</em> = 0.001) of 12-month BMI. A baseline EAT-10 total score of ≥ 4 predicted malnutrition twelve months after administration (sensitivity = 0.93; specificity = 1; AUC = 0.95).</div></div><div><h3>Discussion</h3><div>Dysphagia, as measured using the EAT-10, was associated with BMI in the XDP population. Additionally, an EAT-10 total score ≥ 4 could predict malnutrition in twelve months after test administration. With these findings, healthcare providers could identify patients with XDP at high risk for malnutrition earlier and provide intervention sooner.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100282"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142706424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of MIBG uptake in the major salivary glands between Lewy body disease and progressive supranuclear palsy 路易体病与进行性核上性麻痹在主要唾液腺中的 MIBG 摄取比较
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100287
Junya Ebina , Sunao Mizumura , Mari Shibukawa , Harumi Morioka , Junpei Nagasawa , Masaru Yanagihashi , Takehisa Hirayama , Nobutomo Ishii , Yukio Kobayashi , Akira Inaba , Satoshi Orimo , Osamu Kano
{"title":"Comparison of MIBG uptake in the major salivary glands between Lewy body disease and progressive supranuclear palsy","authors":"Junya Ebina ,&nbsp;Sunao Mizumura ,&nbsp;Mari Shibukawa ,&nbsp;Harumi Morioka ,&nbsp;Junpei Nagasawa ,&nbsp;Masaru Yanagihashi ,&nbsp;Takehisa Hirayama ,&nbsp;Nobutomo Ishii ,&nbsp;Yukio Kobayashi ,&nbsp;Akira Inaba ,&nbsp;Satoshi Orimo ,&nbsp;Osamu Kano","doi":"10.1016/j.prdoa.2024.100287","DOIUrl":"10.1016/j.prdoa.2024.100287","url":null,"abstract":"<div><h3>Introduction</h3><div>Cardiac sympathetic denervation is specific to Lewy body disease (LBD). In Parkinson’s disease (PD), sympathetic denervation in the major salivary glands (parotid glands [PG] and submandibular glands [SMG]) has been demonstrated by <sup>123</sup>I-metaiodobenzylguanidine (MIBG) scintigraphy. We compared sympathetic denervation in the MSG between PD, dementia with Lewy bodies (DLB), and progressive supranuclear palsy (PSP).</div></div><div><h3>Methods</h3><div>We recruited 81 patients with PD, 12 with DLB, 13 with PSP and 25 with control subjects. We evaluated MIBG uptake in the major salivary glands and heart using a quantitative semi-automatic method. We compared MIBG uptake between PD, DLB, and PSP patients and controls, and we evaluated disease sensitivity and specificity. We compared olfactory function with MIBG uptake between PD and PSP patients.</div></div><div><h3>Results</h3><div>MIBG uptake in the PG and SMG in the delayed phase was significantly lower in PD and DLB patients than in PSP patients and controls. Conversely, MIBG uptake in the major salivary glands and heart was comparable between PD and DLB. Between LBD and non-LBD, MIBG uptake showed 56–100 % specificity in the PG, while it had 55.6–87.5 % sensitivity in the SMG. Between PD and PSP, MIBG uptake in the PG and SMG had higher disease specificity than olfactory function, while the sensitivity of SMG MIBG uptake was comparable to olfactory function.</div></div><div><h3>Conclusion</h3><div>PD and DLB patients showed lower MIBG uptake in the major salivary glands than PSP patients, especially in the delayed phase. MIBG uptake in the major salivary glands may differentiate PD from hyposmic PSP.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100287"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142706423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Treatment of task-specific dystonia in sports: A systematic review 运动中任务特异性肌张力障碍的治疗:系统回顾
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100245
B. Nijenhuis , E. van Wensen , M. Smit , T. van Zutphen , J. Zwerver , M.A.J. Tijssen
{"title":"Treatment of task-specific dystonia in sports: A systematic review","authors":"B. Nijenhuis ,&nbsp;E. van Wensen ,&nbsp;M. Smit ,&nbsp;T. van Zutphen ,&nbsp;J. Zwerver ,&nbsp;M.A.J. Tijssen","doi":"10.1016/j.prdoa.2024.100245","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100245","url":null,"abstract":"<div><h3>Introduction</h3><p>Task specific dystonia is a movement disorder only affecting a highly practiced skill and is found in a broad set of expert movements including in sports. Despite affecting many sports, there is no comprehensive review of treatment options, which is in contrast to better studied forms of task specific dystonia in musicians and writers. For this reason, studies involving an intervention to treat task specific dystonia in sports were systematically reviewed, with special attention for the quality of outcome measures.</p></div><div><h3>Methods</h3><p>The PICO systematic search strategy was employed on task-specific dystonia, and all synonyms. Inclusion criteria were peer reviewed published studies pertaining to sports, studies with a measurement and/or intervention in TSD, all in English. We excluded abstracts, expert opinions, narrative review articles, unpublished studies, dissertations and studies exclusively relating to choking. We included case reports, case studies and case-control studies.</p></div><div><h3>Results</h3><p>In April 2022 Pubmed, Embase, Web of Science, and Psychinfo were searched. Of the 7000 articles identified, 31 were included that described psychological and invasive and/or pharmacological interventions. There was a lack of formal standardized outcome measures in studies resulting in low quality evidence for the effectiveness of treatment options. A descriptive synthesis showed emotional regulation was effective, but was exclusively tried in golfers. Interventions like botulinum toxin or pharmacology had a similar effectiveness compared to studies in musicians dystonia, however there was almost no formal evidence for these treatments.</p></div><div><h3>Conclusion</h3><p>The quality of studies was low with a lack of standardized outcome measures. Future studies with larger cohorts and quantitative outcome measures are needed to improve understanding of treatments for task specific dystonia in athletes.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100245"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000148/pdfft?md5=6174975c3990cd5aae605963e581058f&pid=1-s2.0-S2590112524000148-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140031577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inter-rater reliability of hand motor function assessment in Parkinson’s disease: Impact of clinician training 帕金森病患者手部运动功能评估的评分者间可靠性:临床医师培训的影响
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100278
Lorna Kenny , Zahra Azizi , Kevin Moore , Megan Alcock , Sarah Heywood , Agnes Jonsson , Keith McGrath , Mary J. Foley , Brian Sweeney , Sean O’Sullivan , John Barton , Salvatore Tedesco , Marco Sica , Colum Crowe , Suzanne Timmons
{"title":"Inter-rater reliability of hand motor function assessment in Parkinson’s disease: Impact of clinician training","authors":"Lorna Kenny ,&nbsp;Zahra Azizi ,&nbsp;Kevin Moore ,&nbsp;Megan Alcock ,&nbsp;Sarah Heywood ,&nbsp;Agnes Jonsson ,&nbsp;Keith McGrath ,&nbsp;Mary J. Foley ,&nbsp;Brian Sweeney ,&nbsp;Sean O’Sullivan ,&nbsp;John Barton ,&nbsp;Salvatore Tedesco ,&nbsp;Marco Sica ,&nbsp;Colum Crowe ,&nbsp;Suzanne Timmons","doi":"10.1016/j.prdoa.2024.100278","DOIUrl":"10.1016/j.prdoa.2024.100278","url":null,"abstract":"<div><div>Medication adjustments in Parkinson’s disease (PD) are driven by patient subjective report and clinicians’ rating of motor feature severity (such as bradykinesia and tremor).</div></div><div><h3>Objective</h3><div>As patients may be seen by different clinicians at different visits, this study aims to determine the inter-rater reliability of upper limb motor function assessment among clinicians treating people with PD (PwPD).</div></div><div><h3>Methods</h3><div>PwPD performed six standardised hand movements from the Movement Disorder Society’s Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), while two cameras simultaneously recorded. Eight clinicians independently rated tremor and bradykinesia severity using a visual analogue scale. We compared intraclass correlation coefficient (ICC) before and after a training/calibration session where high-variance participant videos were reviewed and MDS-UPDRS instructions discussed.</div></div><div><h3>Results</h3><div>In the first round, poor agreement was observed for most hand movements, with best agreement for resting tremor (ICC 0.66 bilaterally; right hand 95 % CI 0.50–0.82; left hand: 0.50–0.81). Postural tremor (left hand) had poor agreement (ICC 0.14; 95 % CI 0.04–0.33), as did wrist pronation-supination (right hand ICC 0.34; 95 % CI 0.19–0.56). In post-training rating exercises, agreements improved, especially for the right hand. Best agreement was observed for hand open-close ratings in the left hand (ICC 0.82, 95 % CI 0.64–0.94) and resting tremor in the right hand (ICC 0.92, 95 % CI 0.83–0.98). Discrimination between right and left hand features by raters also improved, except in resting tremor (disimprovement) and wrist pronation-supination (no change).</div></div><div><h3>Conclusions</h3><div>Clinicians vary in rating video-recorded PD upper limb motor features, especially bradykinesia, but this can be improved somewhat with training.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100278"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142572472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Orthostatic hypotension and subjective symptomatic orthostasis in Parkinson’s disease: Associations and correlations 帕金森病患者的直立性低血压和主观症状性直立性低血压:关联性和相关性
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100262
Jillian M. Heisler , Jon Toledo-Atucha , Chih-Chun Lin , Harsh N. Patel , William G. Ondo
{"title":"Orthostatic hypotension and subjective symptomatic orthostasis in Parkinson’s disease: Associations and correlations","authors":"Jillian M. Heisler ,&nbsp;Jon Toledo-Atucha ,&nbsp;Chih-Chun Lin ,&nbsp;Harsh N. Patel ,&nbsp;William G. Ondo","doi":"10.1016/j.prdoa.2024.100262","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100262","url":null,"abstract":"<div><h3>Background</h3><p>Both measured orthostatic hypotension and symptomatic orthostasis are common in PD but their relationship is unclear.</p></div><div><h3>Objective</h3><p>We aim to determine clinical predictors of both measured orthostatic hypotension and reported symptomatic orthostasis in PD, including the impact of “on”/“off” status and seasons, and to determine the correlation between measured OH and subjective orthostasis.</p></div><div><h3>Methods</h3><p>We analyzed BP readings, demographic and disease state predictors for both 1. Measured blood pressure OH criteria and 2. The subjective report of orthostatic symptoms, using logistic regression analyses from an initial “on” motor state clinical visit in all PD patient visits. We then correlated subjective orthostasis symptoms with BP measurements. We also compared intra-subject BP measures in PD patients seen in both “on” and “off” states, and when seen “on” in both summer and winter.</p></div><div><h3>Results</h3><p>723 consecutive visits over 2 years identified 250 unique PD individuals. Subjective orthostasis was reported by 44 % and “on” measured OH (&gt;20 drop in SBP or 10 DBP upon standing) was seen in 30 %. Measured OH did not significantly correlate with any assessed clinical feature or specific medicine. Subjective orthostasis correlated most with older age, dementia, and L-dopa use. Subjective orthostasis correlated equally with absolute lower measured standing SBP and the drop in SBP from sitting to standing. Compared to the “off” state, “on” state showed lower sitting and standing SBP, more than DBP, but no significant change in BP drop upon standing. Seasons did not impact measured BP.</p></div><div><h3>Conclusions</h3><p>Both OH and symptomatic orthostasis are common. Dopaminergic medications did not cause traditionally defined OH but lowered all SBP (sitting and standing) and thus reduced pulse pressure, possibly by increasing arteriole compliance simply by reducing motor tone, as this BP-lowering effect may be specific to Parkinsonism.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100262"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000331/pdfft?md5=42edf063500ffdb6a0c88fae7251bed3&pid=1-s2.0-S2590112524000331-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Apomorphine titration with and without anti-emetic pretreatment in patients with Parkinson’s disease experiencing OFF episodes: A modified Delphi panel 阿朴吗啡滴定治疗帕金森病患者的 "关断 "发作,有无止吐预处理?改良德尔菲小组
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100264
Stuart H. Isaacson , Richard Dewey , Robert A. Hauser , Daniel Kremens , Rajeev Kumar , Mark Lew , William Ondo , Fernando Pagan , Kelly E. Lyons , Rajesh Pahwa
{"title":"Apomorphine titration with and without anti-emetic pretreatment in patients with Parkinson’s disease experiencing OFF episodes: A modified Delphi panel","authors":"Stuart H. Isaacson ,&nbsp;Richard Dewey ,&nbsp;Robert A. Hauser ,&nbsp;Daniel Kremens ,&nbsp;Rajeev Kumar ,&nbsp;Mark Lew ,&nbsp;William Ondo ,&nbsp;Fernando Pagan ,&nbsp;Kelly E. Lyons ,&nbsp;Rajesh Pahwa","doi":"10.1016/j.prdoa.2024.100264","DOIUrl":"10.1016/j.prdoa.2024.100264","url":null,"abstract":"<div><h3>Introduction</h3><p>In the United States (US), prophylactic treatment with the antiemetic trimethobenzamide has been used before initiating apomorphine therapy. However, US trimethobenzamide stores have been depleted, leaving uncertainty regarding whether antiemetic pretreatment is needed.</p></div><div><h3>Methods</h3><p>This modified Delphi panel aimed to inform circumstances when apomorphine is initiated without antiemetic pretreatment. During Round 1, a panel of 9 US movement disorder specialists rated the appropriateness of prescribing apomorphine therapy with and without antiemetic pretreatment across 192 patient scenarios and were able to review their scores in relation to other scores. During the Round 2, consensus was defined for each scenario as either strong (&gt;75 % agreement) or moderate (66 % agreement).</p></div><div><h3>Results</h3><p>There was strong consensus on 118 of 192 scenario’s (97 as appropriate and 21 as inappropriate), moderate consensus on 29 scenarios, some agreement on 32 scenarios, and lack of agreement on 13 scenarios. In the absence of an antiemetic, there was strong consensus that titration schedules should be flexible and based on dose response. However, the group only reached moderate consensus on the speed of titration, highlighting the need for more systematic information on this area. In the presence of an antiemetic, panelists considered usual initial dosing and flexible titration to be appropriate in most scenarios except for when the patient is already experiencing dopaminergic adverse events.</p></div><div><h3>Conclusions</h3><p>Experts generally reached consensus that apomorphine can usually be prescribed without antiemetic pretreatment. Recommendations described here reflect the areas of greatest agreement among a panel of experts based on current available evidence.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100264"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000355/pdfft?md5=6ba220423b62c813059f60b2494d160c&pid=1-s2.0-S2590112524000355-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141716095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Meaning in life and Parkinson’s disease in the UK Biobank 英国生物数据库中的生命意义与帕金森病
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2023.100231
Angelina R. Sutin , Martina Luchetti , Yannick Stephan , Antonio Terracciano
{"title":"Meaning in life and Parkinson’s disease in the UK Biobank","authors":"Angelina R. Sutin ,&nbsp;Martina Luchetti ,&nbsp;Yannick Stephan ,&nbsp;Antonio Terracciano","doi":"10.1016/j.prdoa.2023.100231","DOIUrl":"https://doi.org/10.1016/j.prdoa.2023.100231","url":null,"abstract":"<div><h3>Introduction</h3><p>Meaning in life is an aspect of eudaimonic well-being associated with lower dementia risk. This research examines whether this protective association extends to Parkinson’s disease (PD).</p></div><div><h3>Methods</h3><p>Participants (<em>N</em> = 153,569) from the UK Biobank reported on their meaning in life. Cases of PD were identified through health records.</p></div><div><h3>Results</h3><p>Meaning in life was associated with a 50 % lower likelihood of prevalent PD (OR = 0.68, 95 % CI = 0.59–0.78). Over the 5-year follow-up, meaning was associated with a 35 % lower risk of incident PD (HR = 0.74, 95 % CI = 0.65–0.83), an association robust to sociodemographic characteristics, depression, history of seeking mental health care, smoking, physical activity, and genetic risk and not moderated by age, sex, education, deprivation, or genetic risk.</p></div><div><h3>Conclusions</h3><p>Meaning in life is associated with lower risk of incident PD, an association independent of other major risk factors and generalizable across sociodemographic groups. Meaning is a promising target of intervention for common neurodegenerative diseases.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100231"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S259011252300049X/pdfft?md5=13f5541a2e83d4991c76267b5ffb5daa&pid=1-s2.0-S259011252300049X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139100978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease 帕金森病中的含缬氨苷蛋白致病变体 p.R487H
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100236
Capucine Piat, Owen A. Ross, Wolfdieter Springer, Eduardo E. Benarroch, J. Layne Moore, Emily Lauer, Zhiyv Niu, Rodolfo Savica
{"title":"Valosin-containing-protein pathogenic variant p.R487H in Parkinson’s disease","authors":"Capucine Piat,&nbsp;Owen A. Ross,&nbsp;Wolfdieter Springer,&nbsp;Eduardo E. Benarroch,&nbsp;J. Layne Moore,&nbsp;Emily Lauer,&nbsp;Zhiyv Niu,&nbsp;Rodolfo Savica","doi":"10.1016/j.prdoa.2024.100236","DOIUrl":"https://doi.org/10.1016/j.prdoa.2024.100236","url":null,"abstract":"<div><p>We describe a 66-year-old woman with Parkinson’s disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (<em>VCP</em>) gene. She responded excellently to L-dopa, had no cognitive or motoneuronal dysfunction. Laboratory analyses and MRI were unremarkable. Genetic testing revealed a heterozygous variant in <em>VCP</em>(NM_007126.5), chr9 (GRCh3 7):g.35060820C &gt; T, c.1460G &gt; A p.Arg487His (p.R487H).</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100236"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590112524000057/pdfft?md5=e55fd004326e5eadac7a281cd165485b&pid=1-s2.0-S2590112524000057-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139549345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Validation of the Kazakh version of the movement disorder Society-Unified Parkinson's disease rating scale 运动障碍协会统一帕金森病评分量表哈萨克斯坦版的验证
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100232
Saltanat Abdraimova , Zhanybek Myrzayev , Altynay Karimova , Altynay Talgatkyzy , Talgat Khaibullin , Gulnaz Kaishibayeva , Sandugash Elubaeva , Karlygash Esembekova , Dongrak Choi , Pablo Martinez-Martin , Christopher G. Goetz , Glenn T. Stebbins , Sheng Luo , Chingiz Shashkin , Nazira Zharkinbekova , Rauan Kaiyrzhanov
{"title":"Validation of the Kazakh version of the movement disorder Society-Unified Parkinson's disease rating scale","authors":"Saltanat Abdraimova ,&nbsp;Zhanybek Myrzayev ,&nbsp;Altynay Karimova ,&nbsp;Altynay Talgatkyzy ,&nbsp;Talgat Khaibullin ,&nbsp;Gulnaz Kaishibayeva ,&nbsp;Sandugash Elubaeva ,&nbsp;Karlygash Esembekova ,&nbsp;Dongrak Choi ,&nbsp;Pablo Martinez-Martin ,&nbsp;Christopher G. Goetz ,&nbsp;Glenn T. Stebbins ,&nbsp;Sheng Luo ,&nbsp;Chingiz Shashkin ,&nbsp;Nazira Zharkinbekova ,&nbsp;Rauan Kaiyrzhanov","doi":"10.1016/j.prdoa.2024.100232","DOIUrl":"10.1016/j.prdoa.2024.100232","url":null,"abstract":"<div><h3>Background and Purpose</h3><p>The International Movement Disorder Society revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) is widely used in the assessment of the severity of Parkinson’s disease (PD). This study aimed to validate the Kazakh version of the MDS-UPDRS, explore its dimensionality, and compare it to the original English version.</p></div><div><h3>Methods</h3><p>The validation was conducted in three phases: first, the English version of the MDS-UPDRS was translated into Kazakh and thereafter back-translated into English by two independent teams; second, the Kazakh version underwent a cognitive pretesting; third, the Kazakh version was tested in 360 native Kazakh-speaking PD patients. Both confirmatory and exploratory factor analyses were performed to validate the scale. We calculated the comparative fit index (CFI) for confirmatory factor analysis and used unweighted least squares for exploratory factor analysis.</p></div><div><h3>Results</h3><p>The CFI was higher than 0.90 for all parts of the scale, thereby meeting the pre-set threshold for the official designation of a validated translation. Exploratory factor analysis also showed that the Kazakh MDS-UPDRS has the analogous factors structure in each part as the English version.</p></div><div><h3>Conclusions</h3><p>The Kazakh MDS-UPDRS had a consistent overall structure as the English MDS-UPDRS, and it was designated as the official Kazakh MDS-UPDRS, which can reliably be used in the Kazakh-speaking populations. Presently, Kazakhstan stands as the sole country in both Central Asia and Transcaucasia with an MDS-approved translated version of the MDS-UPDRS. We expect that other Central Asian and Transcaucasian countries will embark on the MDS Translation Program for MDS-UPDRS in the near future.</p></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"10 ","pages":"Article 100232"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S259011252400001X/pdfft?md5=7507318bbf0ae4d7de353871d67c1485&pid=1-s2.0-S259011252400001X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139396136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 zonisamide on sleep and rapid eye movement sleep behavioral disorders in patients with Parkinson’s disease: A randomized control trial 唑尼沙胺对帕金森病患者睡眠和快速眼动睡眠行为障碍的影响:随机对照试验
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2024-01-01 DOI: 10.1016/j.prdoa.2024.100285
Hiroshi Kataoka , Masahiro Isogawa , Hitoki Nanaura , Hiroyuki Kurakami , Miyoko Hasebe , Kaoru Kinugawa , Takao Kiriyama , Tesseki Izumi , Masato Kasahara , Kazuma Sugie
{"title":"Effect of zonisamide on sleep and rapid eye movement sleep behavioral disorders in patients with Parkinson’s disease: A randomized control trial","authors":"Hiroshi Kataoka ,&nbsp;Masahiro Isogawa ,&nbsp;Hitoki Nanaura ,&nbsp;Hiroyuki Kurakami ,&nbsp;Miyoko Hasebe ,&nbsp;Kaoru Kinugawa ,&nbsp;Takao Kiriyama ,&nbsp;Tesseki Izumi ,&nbsp;Masato Kasahara ,&nbsp;Kazuma Sugie","doi":"10.1016/j.prdoa.2024.100285","DOIUrl":"10.1016/j.prdoa.2024.100285","url":null,"abstract":"<div><h3>Introduction</h3><div>Zonisamide is a medication developed in Japan that is effective for motor symptoms and wearing off in Parkinson’s disease (PD). Zonisamide has properties that may improve sleep disorders. The aim of this study is to verify the safety and efficacy of zonisamide for sleep disorders and rapid eye movement (REM) sleep behavioral disorders (RBD) using a mobile two-channel electroencephalography /electrooculography recording system in patients with PD.</div></div><div><h3>Methods</h3><div>The present study is a single-blind randomized placebo-controlled trial.<!--> <!-->The subjects in the treatment group took zonisamide (25 mg per day) before bedtime. The primary outcome was sleep efficiency. The secondary endpoints were assessed as followed; objective outcomes of TST<em>,</em> WASO, SOL, REM sleep/non-REM sleep ratio, deep sleep (N3) time, ratio of RWA to total REM sleep epochs, and subjective outcomes of the PDSS-2, Pittsburgh sleep questionnaire, and RBDSQ.</div></div><div><h3>Results</h3><div>Between the zonisamide and placebo groups, no significant differences were found in the primary outcome and secondary outcomes.</div></div><div><h3>Conclusions</h3><div>The objective and subjective sleep metrics in this clinical trial did not significantly demonstrate zonisamide efficacy for sleep disorder in patients with PD. Although not significant,<!--> <!-->improvement in WASO and SOL was observed when zonisamide was compared with the placebo.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"11 ","pages":"Article 100285"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142705982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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