Movement Disorders Clinical Practice最新文献_第3页

Tremor in Pediatric Populations: Clinical Characteristics, Differential Diagnosis, and Management Challenges. 小儿人群震颤：临床特征、鉴别诊断和管理挑战。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-24 DOI: 10.1002/mdc3.70008

Christine M Ghadery, Carolina Gorodetsky, Anthony E Lang

{"title":"Tremor in Pediatric Populations: Clinical Characteristics, Differential Diagnosis, and Management Challenges.","authors":"Christine M Ghadery, Carolina Gorodetsky, Anthony E Lang","doi":"10.1002/mdc3.70008","DOIUrl":"https://doi.org/10.1002/mdc3.70008","url":null,"abstract":"Background: Tremor is a hyperkinetic movement disorder defined as a rhythmic, involuntary, oscillatory movement of a body part. It can present as early as in the neonatal period and may be an isolated finding or part of an associated neurological or systemic disorder. Although it is commonly seen in childhood, it is not frequently described in the literature.Objectives: This review aims to provide a clinically useful overview of pediatric tremors based on the current literature.Methods: We identified relevant studies published in English by searching PubMed (until February 2024), using the following subject headings: pediatric/tremor, deep brain stimulation, and focused ultrasound.Results: Data from 65 articles were critically reviewed with focus on tremor classification, etiologies, clinical features, and management.Conclusion: Some tremor disorders in children can persist into adulthood, however, others are exclusively seen in the pediatric population. The lack of epidemiological and clinical studies in the pediatric population creates substantial challenges for pediatricians, and medical decisions are mostly guided by adult data.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701116","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

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease. 中欧早发性和家族性帕金森病患者LRRK2 p.L1795F变异的患病率和临床特征

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-22 DOI: 10.1002/mdc3.70045

Miriam Ostrozovicova, Gertrud Tamas, Agsha Atputhavadivel, Petr Dusek, Milan Grofik, Vladimir Han, Petr Holly, Robert Jech, Katarina Kalinova, Peter Klivenyi, Norbert Kovacs, Kristina Kulcsarova, Egon Kurca, Alexandra Lackova, Hamin Lee, Patrick Lewis, Veronika Magocova, Maria Marekova, David Murphy, Ai Nagano, Jan Necpal, David Pinter, Miroslava Rabajdova, Evzen Ruzicka, Tereza Serranova, Katarzyna Smilowska, Krisztina Soos, Igor Straka, Tatiana Svorenova, Peter Valkovic, Katerina Zarubova, Zuzana Gdovinova, Henry Houlden, Mie Rizig, Matej Skorvanek

{"title":"Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.","authors":"Miriam Ostrozovicova, Gertrud Tamas, Agsha Atputhavadivel, Petr Dusek, Milan Grofik, Vladimir Han, Petr Holly, Robert Jech, Katarina Kalinova, Peter Klivenyi, Norbert Kovacs, Kristina Kulcsarova, Egon Kurca, Alexandra Lackova, Hamin Lee, Patrick Lewis, Veronika Magocova, Maria Marekova, David Murphy, Ai Nagano, Jan Necpal, David Pinter, Miroslava Rabajdova, Evzen Ruzicka, Tereza Serranova, Katarzyna Smilowska, Krisztina Soos, Igor Straka, Tatiana Svorenova, Peter Valkovic, Katerina Zarubova, Zuzana Gdovinova, Henry Houlden, Mie Rizig, Matej Skorvanek","doi":"10.1002/mdc3.70045","DOIUrl":"https://doi.org/10.1002/mdc3.70045","url":null,"abstract":"Background: Leucine-rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown.Objective: The aim was to evaluate the frequency and phenotype of p.L1795F in early-onset PD (EOPD) and familial PD compared to healthy controls (HC) in Central Europe.Methods: Whole-exome sequencing was used to screen 219 EOPD and familial PD patients of Central Europeans compared to HC. Sanger sequencing assessed segregation. Detailed clinical phenotype was evaluated for all positive carriers.Results: p.L1795F was identified in 1.37% (3/219) and 3.23% of familial cases (3/93), with no carriers among HCs (0/303). Segregation analysis confirmed association with PD. Carriers were traced to the eastern Slovak-Hungarian region. It also appears to be associated with a more aggressive phenotype.Conclusion: Our data indicate that p.L1795F contributes to PD in Central Europe. Further exploration in larger cohorts is warranted to establish its contribution to global PD risk.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676896","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

Rare GNAO1 Variant Presenting with Deep Brain Stimulation-Responsive Jaw-Opening Dystonia. 罕见的 GNAO1 变体伴有脑深部刺激反应性下颌张开性肌张力障碍。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-22 DOI: 10.1002/mdc3.70048

Fabian Maass, Saskia Biskup, Vesna Malinova, Christiane Weinrich, Christoph van Riesen

引用次数: 0

Using Principles of Cognitive Behavioral Therapy to Treat Anxiety in Parkinson's Disease. 利用认知行为疗法的原理治疗帕金森病患者的焦虑症。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-21 DOI: 10.1002/mdc3.70056

Alice Cronin-Golomb, Bradley McDaniels, Soania Mathur, Gregory M Pontone, Gretchen O Reynolds, Indu Subramanian

{"title":"Using Principles of Cognitive Behavioral Therapy to Treat Anxiety in Parkinson's Disease.","authors":"Alice Cronin-Golomb, Bradley McDaniels, Soania Mathur, Gregory M Pontone, Gretchen O Reynolds, Indu Subramanian","doi":"10.1002/mdc3.70056","DOIUrl":"https://doi.org/10.1002/mdc3.70056","url":null,"abstract":"Anxiety significantly affects persons with Parkinson's disease (PwP), often emerging in the prodromal phase before the onset of symptoms and persisting throughout the disease's course. It is among the most disabling, stigmatizing, and under-recognized symptoms of Parkinson's disease (PD). Consequently, it is critical to provide tools that can be universally applied and that are accessible to help all PwP live better. This article discusses the nature of anxiety in PwP, how to identify it, and how to treat it across stages of the disease. We highlight cognitive behavioral therapy (CBT), a type of psychotherapy in widespread use for anxiety and depression in general and increasingly used in PwP. The neurologist can apply the basic principles of CBT. The principles can be used by clinicians who are treating PwP globally, as they require no pharmacological intervention and minimal resources. As the disease progresses, a multidisciplinary team may be preferable to address the complex challenges that PD presents, including anxiety. The focus is on a patient-centered approach, providing compassion, hope, and resources to optimize the mental and physical well-being of PwP. Empowering PwP fosters self-agency and can significantly improve quality of life.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674267","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

Not So Smooth Sailing: FIG4-Related Disease Is a Differential Diagnosis of Rapid Onset Dystonia-Parkinsonism. 不那么一帆风顺：图4相关疾病是快速发作性肌张力障碍-帕金森病的鉴别诊断。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-21 DOI: 10.1002/mdc3.70049

Matthew Julian Georgiades, Duncan Wilson, Maria Garcia, Robert Boland-Freitas, Hugo Morales-Briceño, Neil Mahant, Victor Shue Chung Fung, Andrew Martin

引用次数: 0

Enhancing Parkinson's Disease Research: Recommendations for Addressing Genetic and Environmental Influences in Family History Studies. 加强帕金森氏病研究：在家族史研究中解决遗传和环境影响的建议

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-21 DOI: 10.1002/mdc3.70036

Rongrong Zhu, Huimin Tao, Sheng Zhou

引用次数: 0

"The Machine Will See You Now": A Clinician's Perspective on Artificial "Intelligence" In Clinical Care. “机器现在会看到你”：临床医生对临床护理中人工“智能”的看法。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-20 DOI: 10.1002/mdc3.70054

Abhimanyu Mahajan, Andrew J Lees

引用次数: 0

Re-Emergent Vocal Tremor in a Patient with Parkinson's Disease. 帕金森氏病患者再次出现的声带震颤。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-20 DOI: 10.1002/mdc3.70043

Takeharu Tsuboi, Yasuhiro Tanaka, Kosuke Kobayasi, Rina Hashimoto, Yoko Ito, Naoki Nishio, Takashi Tsuboi, Michihiko Sone, Masahisa Katsuno, Ikuko Aiba

引用次数: 0

Education Level and Huntington's Disease Progression: A Retrospective Cohort Analysis in Western China. 教育水平与亨廷顿病进展：中国西部地区回顾性队列分析。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-19 DOI: 10.1002/mdc3.70047

Sirui Zhang, Yangfan Cheng, Lingyu Zhang, Yuanzheng Ma, Jiajia Fu, Tianmi Yang, Jieqiang Xia, Chunyu Li, Jean-Marc Burgunder, Huifang Shang

{"title":"Education Level and Huntington's Disease Progression: A Retrospective Cohort Analysis in Western China.","authors":"Sirui Zhang, Yangfan Cheng, Lingyu Zhang, Yuanzheng Ma, Jiajia Fu, Tianmi Yang, Jieqiang Xia, Chunyu Li, Jean-Marc Burgunder, Huifang Shang","doi":"10.1002/mdc3.70047","DOIUrl":"https://doi.org/10.1002/mdc3.70047","url":null,"abstract":"Background: Identifying the effect of modifiable socio-environmental factors on Huntington's disease (HD) symptoms onset and progression is of great value. The role of educational attainment in HD clinical characteristics has not been elucidated.Objectives: To clarify the effect of education attainment on the age of motor symptoms onset and clinical progression of HD patients from Western China.Methods: A total of 244 adult-onset Chinese HD patients were included in the analysis. Linear regression, Kaplan-Meier analysis, and Cox regression analysis were conducted to assess the effect of education on the disease progression in HD.Results: Higher education level was significantly associated with slower decline in cognitive performance, as indicated by the Symbol Digit Modality Test (β = 0.339 [95% CI, 0.047, 0.632], p = 0.026), while it exhibited no association with the progression of other symptoms.Conclusions: The present findings suggest that education attainment is associated with a milder cognitive decline in Chinese HD patients.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656853","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

Clinical and Imaging Correlates of Medication Reduction in Globus Pallidus Stimulation for Parkinson's Disease. 帕金森病苍白球刺激药物减少的临床和影像学相关性

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-03-18 DOI: 10.1002/mdc3.70042

Daniel G Di Luca, Carolina Ramirez-Gomez, Brendan Santyr, Marco Fumagalli, Jürgen Germann, Suneil K Kalia, Andres M Lozano, Alfonso Fasano

{"title":"Clinical and Imaging Correlates of Medication Reduction in Globus Pallidus Stimulation for Parkinson's Disease.","authors":"Daniel G Di Luca, Carolina Ramirez-Gomez, Brendan Santyr, Marco Fumagalli, Jürgen Germann, Suneil K Kalia, Andres M Lozano, Alfonso Fasano","doi":"10.1002/mdc3.70042","DOIUrl":"https://doi.org/10.1002/mdc3.70042","url":null,"abstract":"Background: The magnitude and factors associated with levodopa equivalent daily dose (LEDD) reduction in deep brain stimulation (DBS) of the globus pallidus interna (GPi) for Parkinson's Disease (PD) remain unclear.Objective: To investigate LEDD reduction in GPi DBS and its correlation with anatomical/clinical characteristics.Methods: A consecutive cohort of 74 patients who had undergone GPi DBS was analyzed. Regression and probabilistic efficacy mapping were performed to evaluate factors predicting LEDD reduction.Results: 32.4% of GPi individuals experienced significant LEDD reduction (>30%). Anteromedial GPi stimulation was associated with higher LEDD reduction.Conclusion: Anteromedial stimulation of the GPi appears to be associated with medication reduction, challenging the idea that GPi DBS is ineffective at reducing LEDD. Further prospective study will be needed to validate these findings.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649861","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