Movement Disorders Clinical Practice最新文献_第4页

Long-Term Quality of Life Trend after Subthalamic Stimulation for Parkinson's Disease: An Updated Systematic Review and Meta-Analysis.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-05 DOI: 10.1002/mdc3.70025

Luis Otávio Nogueira, Angela Maria Sandini Corso, Louise Dalla Corte Dallé, Vanio L J Antunes, Matheus de M Fernandes, Isabella S M Rabelo, Marcus V Della Coletta, Carolina Candeias da Silva, Lorena Broseghini Barcelos, Henrique Ballalai Ferraz, Robson Luis Oliveira de Amorim, Dayany Leonel Boone

{"title":"Long-Term Quality of Life Trend after Subthalamic Stimulation for Parkinson's Disease: An Updated Systematic Review and Meta-Analysis.","authors":"Luis Otávio Nogueira, Angela Maria Sandini Corso, Louise Dalla Corte Dallé, Vanio L J Antunes, Matheus de M Fernandes, Isabella S M Rabelo, Marcus V Della Coletta, Carolina Candeias da Silva, Lorena Broseghini Barcelos, Henrique Ballalai Ferraz, Robson Luis Oliveira de Amorim, Dayany Leonel Boone","doi":"10.1002/mdc3.70025","DOIUrl":"https://doi.org/10.1002/mdc3.70025","url":null,"abstract":"Background: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is a well-established treatment for Parkinson's Disease (PD). However, the long-term trajectory of Quality of Life (QoL) following STN-DBS remains underexplored.Objectives: We aimed to conduct a systematic review and meta-analysis to assess QoL trends up to five years after STN-DBS.Methods: We systematically searched PubMed, Embase, and Cochrane databases from inception to August 2024 for studies involving PD patients treated with bilateral STN-DBS, evaluating QoL using the Parkinson's Disease Questionnaire (PDQ), with a minimum follow-up of 12 months post-surgery. Continuous outcomes were pooled using standardized mean differences (SMD), and statistical analyses were conducted using R version 4.3.2.Results: Out of 4106 screened articles, 42 studies with a total of 2767 patients were included in the meta-analysis. QoL improvements were observed up to 36 months post-surgery (SMD 0.83; 95% CI 0.29 to 1.37), followed by a decline to pre-operative levels at 60 months (SMD -0.06; 95% CI -0.26 to 0.15). Subdomain analysis at 60 months revealed significant deterioration in cognitive function and communication. Meta-regression indicated that QoL improvements were independent of clinical and sociodemographic factors such as age, sex, and disease duration; however, there was a correlation with mean baseline PDQ (P = 0.01).Conclusions: This meta-analysis provides long-term QoL trends following STN-DBS, highlighting a further need to explore the factors driving the decline in QoL and develop strategies to mitigate this deterioration.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557459","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

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-03 DOI: 10.1002/mdc3.70027

Sepehr Khosravi, Elaheh Amini, Maziar Emamikhah, Afagh Alavi, Anthony E Lang, Mohammad Rohani

{"title":"Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.","authors":"Sepehr Khosravi, Elaheh Amini, Maziar Emamikhah, Afagh Alavi, Anthony E Lang, Mohammad Rohani","doi":"10.1002/mdc3.70027","DOIUrl":"https://doi.org/10.1002/mdc3.70027","url":null,"abstract":"Background: Mutations in the ATP13A2 gene have been implicated in various neurodegenerative disorders, including Kufor-Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). This report presents two Iranian families with ATP13A2 variants exhibiting atypical features of KRS.Cases: We highlight four patients from two consanguineous Iranian families with mutations in the ATP13A2 gene presenting with variable features of motor neuron disease as well as juvenile-onset parkinsonism, and cognitive decline. The onset of symptoms ranged from 11 to 29 years, with initial manifestations including gait disturbance, postural instability, and cognitive impairment. As the disease progressed, patients developed a range of neurological signs, such as dystonia, spasticity, and dysarthria.Conclusion: This report expands the phenotypic spectrum of ATP13A2-related disorders, highlighting the potential overlap of symptoms associated with KRS, ALS, and HSP.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542615","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

Positive Effects of Caffeine Therapy in a Girl with PDE2A-Related Paroxysmal Dyskinesia.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-03 DOI: 10.1002/mdc3.70019

Katerina Bernardi, Moritz Thiel, Anne Koy

引用次数: 0

Reported Symptoms in Prodromal and Early Motor Parkinson's Disease: A Scoping Review on the Patient Perspective.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-03 DOI: 10.1002/mdc3.70007

Joseph Saade, Alice van Wyk, Glenn T Stebbins, Tiago A Mestre

{"title":"Reported Symptoms in Prodromal and Early Motor Parkinson's Disease: A Scoping Review on the Patient Perspective.","authors":"Joseph Saade, Alice van Wyk, Glenn T Stebbins, Tiago A Mestre","doi":"10.1002/mdc3.70007","DOIUrl":"https://doi.org/10.1002/mdc3.70007","url":null,"abstract":"Background: The lived experience of Parkinson's disease (PD) includes motor and non-motor symptoms. There is a need to capture the earliest patient experiences in a sensitive and reliable manner for the successful development of interventions that may delay clinical progression in PD.Objective: Our aim was to synthesize published literature about patient-reported symptoms in prodromal and early motor stages of PD and develop a conceptual framework of the earliest lived experiences in PD.Methods: We conducted a scoping review of the published literature in MEDLINE, EMBASE, SCOPUS, and CINAHL databases and abstracted patient-reported symptoms from included studies reporting on prodromal or early motor stages of PD populations.Results: We included 59 articles with data from 64 cohorts (prodromal PD: n = 20/64; 31%, early motor PD: n = 44/64, 69%). Overall, the 10 most frequent symptoms (of 85 standardized reported symptoms [SRSs]) were non-motor. SRSs were grouped into symptom domains (behavioral, cognition, dysautonomia, motor, sensory, sleep, and others) and functional domains (activities of daily living, communication, sexual, and social impairment). The Movement Disorder Society sponsored revision of the Unified Parkinson's Disease Rating Scale parts Ib and II (n = 13/64, 20%) and ad hoc questionnaires (n = 12/64, 19%) were the most frequently used measurement tools.Conclusion: At prodromal and early motor stages of PD, individuals report symptoms of a diverse range of motor and non-motor domains and higher-level functional domains. There is a need to capture the full spectrum of this lived experience in a new patient-reported clinical outcome measure for clinical trials in the earliest clinical stages of PD.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542621","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

A 69-Year-Old Male with Subacute Gait Disturbance-Blastocystis hominis Causing Extensive Colitis with Thiamine Deficiency.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-28 DOI: 10.1002/mdc3.70023

Yi-Cheng Tai, Malan Edward, Chin-Hsien Lin

引用次数: 0

Polygenic Risk Score Combined with Transcranial Sonography Refines Parkinson's Disease Risk Prediction.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-28 DOI: 10.1002/mdc3.70011

Mart Kals, Anu Reigo, Maris Teder-Laving, Mariliis Vaht, Tiit Nikopensius, Andres Metspalu, Toomas Toomsoo

{"title":"Polygenic Risk Score Combined with Transcranial Sonography Refines Parkinson's Disease Risk Prediction.","authors":"Mart Kals, Anu Reigo, Maris Teder-Laving, Mariliis Vaht, Tiit Nikopensius, Andres Metspalu, Toomas Toomsoo","doi":"10.1002/mdc3.70011","DOIUrl":"https://doi.org/10.1002/mdc3.70011","url":null,"abstract":"Background: Dopaminergic neuron depletion in the substantia nigra (SN) and the pathological aggregation of α-synuclein are the neuropathological hallmarks of Parkinson's disease (PD).Objectives: This study aimed to investigate the association between the polygenic risk score for PD (PD-PRS) and transcranial sonography (TCS)-measured SN hyperechogenicity to enhance the accuracy of PD susceptibility prediction.Methods: PD-PRSs were calculated for over 41,000 Estonian Biobank participants age 55+ years without a PD diagnosis. Participants in the highest and lowest PD-PRS percentiles (n = 222) underwent TCS measurements and Sniffin' sticks olfactory testing. A multivariable logistic regression model was used to examine the associations between PD-PRS, risk and prodromal markers, and SN hyperechogenicity.Results: Data from 204 participants with TCS measurements were analyzed, including 107 individuals in the high-risk PD-PRS group and 97 in the low-risk PD-PRS group. Incorporating PD-PRS group assignment improved the explained variance in SN hyperechogenicity from 17.2% to 31.9%. Participants in the low-risk PD-PRS group had 0.16 times lower odds (95% confidence interval (CI) = 0.07-0.35, P < 0.001) of developing SN hyperechogenicity compared to high-risk PD-PRS individuals. Each unit increase in the Sniffin' sticks olfactory test score was significantly associated with reduced odds of SN hyperechogenicity (adjusted odds ratio = 0.60, 95% CI = 0.47-0.78, P = 0.002).Conclusions: Our findings indicate that TCS-measured SN hyperechogenicity is associated with PD-PRS and olfactory impairment. This combined assessment may improve early diagnosis of prodromal PD by pinpointing individuals at increased risk.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523949","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

A Novel Myoclonus-Ataxic Presentation of Chronic Lead Toxicity.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-27 DOI: 10.1002/mdc3.70024

Vikram V Holla, Praveen Sharma, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal

引用次数: 0

Parkinson Disease-Related Phantom Dystonia in an Amputated Limb. 帕金森病导致的截肢幻觉肌张力障碍

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-26 DOI: 10.1002/mdc3.70021

Abdulmunaim M Eid, Shashika Rodrigo, Scott A Norris

引用次数: 0

Mesdopetam for the Treatment of Levodopa Induced Dyskinesia in Parkinson's Disease: A Randomized Phase 2b Trial. 治疗帕金森病左旋多巴诱发的运动障碍的美索培坦：随机 2b 期试验。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-26 DOI: 10.1002/mdc3.70004

Angelo Antonini, Padraig O'Suilleabhain, Fabricio Stocchi, Johanna Landström, Susanna Waters, Clas Sonesson, Joakim Tedroff

{"title":"Mesdopetam for the Treatment of Levodopa Induced Dyskinesia in Parkinson's Disease: A Randomized Phase 2b Trial.","authors":"Angelo Antonini, Padraig O'Suilleabhain, Fabricio Stocchi, Johanna Landström, Susanna Waters, Clas Sonesson, Joakim Tedroff","doi":"10.1002/mdc3.70004","DOIUrl":"https://doi.org/10.1002/mdc3.70004","url":null,"abstract":"Background: The treatment of levodopa-induced dyskinesia in Parkinson's disease (PD) is a largely unmet need.Objectives: Mesdopetam is a novel small molecule dopamine D3 receptor antagonist aimed for the treatment of levodopa-induced dyskinesia. This was a phase 2b study dose finding study to investigate efficacy and safety of 2.5 mg, 5 mg and 7,5 mg b.i.d. in a randomized controlled trial.Methods: PD patients with ≥2 hours of troublesome dyskinesia were randomized to placebo or mesdopetam twice daily for 12 weeks. The primary efficacy endpoint was change from baseline to week 12 in ON time without troublesome dyskinesia (Good ON-time) as recorded with home diaries. Secondary efficacy endpoints assessing ON phase dyskinesia were the modified UDysRS (sum of parts 1, 3 and 4) and MDS-UPDRS part 4.2.Results: Groups did not differ in change from baseline to end of study in Good ON-time. Several secondary assessments for ON phase dyskinesia such as the modified UDysRS showed clinically relevant and statistically significant improvements for the 2.5 and 7.5 mg doses. OFF time showed dose dependent decrease with highest efficacy for the 7.5 mg dose. The adverse event profile was similar to placebo.Conclusions: In this study mesdopetam failed to increase Good ON-time as compared to placebo. However, a statistically significant and clinically meaningful improvement in the prespecified secondary efficacy endpoint UDysRS warrants further investigation. Results from this dose finding study suggest 7.5 mg b.i.d. to be the preferred dose for further study.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502677","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

Acute Neuropsychiatric Decline in a Parkinson's Disease Patient with a Severe GBA1 Mutation Following Bilateral GPi Deep Brain Stimulation.

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-24 DOI: 10.1002/mdc3.70015

Vijay G Palakuzhy, Gian D Pal, Mitra Afshari

引用次数: 0