Journal of Movement Disorders最新文献

Shoulder Dysfunction in Parkinson's Disease: Implications of Motor Subtypes, Disease Severity, and Spinopelvic Alignment.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-08 DOI: 10.14802/jmd.25032

Sieh Yang Lee, Lay San Lim, Yun-Ru Lai, Cheng-Hsien Lu

{"title":"Shoulder Dysfunction in Parkinson's Disease: Implications of Motor Subtypes, Disease Severity, and Spinopelvic Alignment.","authors":"Sieh Yang Lee, Lay San Lim, Yun-Ru Lai, Cheng-Hsien Lu","doi":"10.14802/jmd.25032","DOIUrl":"https://doi.org/10.14802/jmd.25032","url":null,"abstract":"Purpose: To investigate shoulder function and muscle alterations in patients with Parkinson's disease (PD) and to determine their association with spinopelvic parameters and clinical status.Methods: This prospective cohort study included 62 PD patients (divided into PIGD [n=30] and non-PIGD [n=32] groups) and 35 controls. The American Shoulder and Elbow Surgeons score (ASES), range of motion (ROM), and shoulder muscle stiffness were assessed for each group. Data on clinical demographics, PD disease severity, and shoulder parameters were extracted and analyzed.Results: The PIGD group had significantly lower ASES total and sub-scores (all p < 0.05) compared to the controls. Both PIGD and non-PIGD groups demonstrated reduced abduction and forward flexion (all p < 0.05) compared to controls. The PIGD group also had decreased external rotation compared to the non-PIGD group and controls (all p < 0.05). Infraspinatus muscle stiffness was higher in the PIGD group than in controls (p = 0.012). Correlation analysis revealed that shoulder condition was significantly associated with PD disease severity and PIGD score, while muscle stiffness was linked to spinopelvic alignment and PIGD score. Various clinical factors, including PD disease severity, PIGD score, tremor score, and spinopelvic alignment, significantly correlated with shoulder ROM.Conclusion: PD patients experienced shoulder dysfunction in various ways, including decreased ASES scores, limited ROM, and increased shoulder muscle stiffness. Our study highlighted the impact of PD motor subtype, disease severity, and spinopelvic alignment on the development of shoulder dysfunction, offering deeper insights into the pathophysiological basis of shoulder disorders in PD.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803550","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

Is there a link between progressive supranuclear palsy and bullous pemphigoid?

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-08 DOI: 10.14802/jmd.25019

Winn Hui Han, Shin Shen Yong, Zhenli Kwan, Shen-Yang Lim

引用次数: 0

A Cautionary Note on the Indication for Deep Brain Stimulation in Parkinsonism Patients with SLC9A6 Gene Mutations.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-04-02 DOI: 10.14802/jmd.25054

Shohei Okusa, Toshiki Tezuka, Kenzo Kosugi, Yasuharu Yamamoto, Keisuke Takahata, Makoto Higuchi, Takenori Akiyama, Masahito Kobayashi, Masahiro Toda, Daisuke Ito, Jin Nakahara, Morinobu Seki

引用次数: 0

Early onset cataracts as a clinical clue to DJ-1-related parkinsonism.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-03-24 DOI: 10.14802/jmd.25016

Sahil Mehta, Jagdeep Singh, Saurabh Mishra, Vivek Lal

引用次数: 0

Feasibility of a Multidomain Intervention for Safe Mobility in People with Parkinson's Disease and Recurrent Falls.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-03-14 DOI: 10.14802/jmd.24237

Natalie E Allen, Lina Goh, Colleen G Canning, Catherine Sherrington, Lindy Clemson, Jacqueline Ct Close, Stephen R Lord, Simon J G Lewis, Simone Edwards, Susan Harkness, Roslyn Savage, Lyndell Webster, Genevieve Zelma, Serene S Paul

{"title":"Feasibility of a Multidomain Intervention for Safe Mobility in People with Parkinson's Disease and Recurrent Falls.","authors":"Natalie E Allen, Lina Goh, Colleen G Canning, Catherine Sherrington, Lindy Clemson, Jacqueline Ct Close, Stephen R Lord, Simon J G Lewis, Simone Edwards, Susan Harkness, Roslyn Savage, Lyndell Webster, Genevieve Zelma, Serene S Paul","doi":"10.14802/jmd.24237","DOIUrl":"https://doi.org/10.14802/jmd.24237","url":null,"abstract":"Objective: Mobility limitations and falls are common in people with Parkinson's disease (PwP). A tailored, multidomain intervention has the potential to be more effective in improving mobility safety and preventing falls than exercise alone. This study aimed to explore the feasibility and potential effectiveness of a multidomain fall prevention intervention (Integrate) designed for PwP who fall frequently.Methods: The home-based intervention was delivered over 6 months by occupational therapists and physiotherapists. The personalized intervention incorporated home fall-hazard reduction, exercise and safer mobility behavior training. Participants received 8 to 12 home visits, and where required, were supported by care-partners to undertake the intervention.Results: Twenty-nine people (49% recruitment rate, 10% drop-out rate) with moderate to advanced Parkinson's disease, a history of recurrent falls and mild to moderate cognitive impairment participated, with 26 completing the study. Adherence was moderate to high and there were no adverse events related to the intervention. Twenty-one (81%) participants met or exceeded their safer mobility goal on the Goal Attainment Scale. Participants had a median 1.0 point clinically meaningful improvement on the Short Physical Performance Battery. An exploratory analysis indicated fall rates reduced by almost 50% in the six-month follow-up period (IRR 0.51, 95% CI 0.28 - 0.92).Conclusions: A multidomain occupational therapy and physiotherapy intervention for PwP with recurrent falls was feasible and appeared to improve mobility safety. A randomized trial powered to detect effects on falls and mobility is warranted.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639507","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

The association between the triglyceride-glucose index and the incidence risk of Parkinson's disease: A nationwide cohort study.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-02-27 DOI: 10.14802/jmd.24131

Yoonkyung Chang, Ju-Young Park, Ji Young Yun, Tae-Jin Song

{"title":"The association between the triglyceride-glucose index and the incidence risk of Parkinson's disease: A nationwide cohort study.","authors":"Yoonkyung Chang, Ju-Young Park, Ji Young Yun, Tae-Jin Song","doi":"10.14802/jmd.24131","DOIUrl":"https://doi.org/10.14802/jmd.24131","url":null,"abstract":"Objective: We aimed to investigate the association between the triglyceride-glucose index, which measures insulin resistance, and the incidence risk of Parkinson's disease.Methods: Our study used the Health Screening Cohort database of the National Health Insurance Service of South Korea (2002-2019). We included 310,021 participants who had no previous history of Parkinson's disease and for which more than 3 triglyceride-glucose index measurements were available. A diagnosis of Parkinson's disease was determined using the code of the International Classification of Diseases 10th edition (G20) with a specific reimbursement code for rare intractable diseases and a history of prescriptions for anti-Parkinsonism drugs.Results: During a median of 9.64 years (interquartile range 8.72-10.53), 4,587 individuals (1.48%) had Parkinson's disease. Based on a multivariable time-dependent Cox proportional hazards model, a per-unit increase in triglyceride-glucose index scores was associated with a significantly increased risk of Parkinson's disease (Hazard ratio (HR): 1.062, 95% confidence interval (CI): 1.007-1.119). In a sensitivity analysis, the triglyceride-glucose index was associated with the incidence risk of Parkinson's disease in a non-diabetes mellitus cohort (HR: 1.093. 95% CI: 1.025-1.165), but not in a diabetes mellitus cohort (HR: 0.990, 95% CI: 0.902-1.087). In a restricted cubic spline analysis, the association between the triglyceride-glucose index and the incidence risk of Parkinson's disease showed a non-linear increasing (J-shape) trend.Conclusion: Our study demonstrated that higher triglyceride-glucose index scores were associated with the incidence risk of Parkinson's disease in the general population, particularly in a non-diabetes mellitus cohort.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515982","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 Chinese child with dystonia linked to EIF2AK2 missense variant: a case report.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-02-20 DOI: 10.14802/jmd.24215

Lifang Dai, Changhong Ren, Shenghan Guan, Xiaojuan Tian, Hui Xiong, Changhong Ding

引用次数: 0

CSF1R-related adult-onset leukoencephalopathy with axonal spheroids: A case series of four Asian Indian patients.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-02-17 DOI: 10.14802/jmd.25004

Divyani Garg, Abhishek Vaingankar, Anu Gupta, Roopa Rajan, Ajay Garg, Ayush Agarwal, Farsana Mustafa, Divya M Radhakrishnan, Awadh Kishor Pandit, Venugopalan Y Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Achal Kumar Srivastava

{"title":"CSF1R-related adult-onset leukoencephalopathy with axonal spheroids: A case series of four Asian Indian patients.","authors":"Divyani Garg, Abhishek Vaingankar, Anu Gupta, Roopa Rajan, Ajay Garg, Ayush Agarwal, Farsana Mustafa, Divya M Radhakrishnan, Awadh Kishor Pandit, Venugopalan Y Vishnu, Mamta Bhushan Singh, Rohit Bhatia, Achal Kumar Srivastava","doi":"10.14802/jmd.25004","DOIUrl":"https://doi.org/10.14802/jmd.25004","url":null,"abstract":"Background: Colony stimulating factor 1 receptor-related leukoencephalopathy (CSF1R-L) is a rare, adult onset leukoencephalopathy. Descriptions from the Indian subcontinent remain limited.Objective: To report four patients with genetically confirmed CSF1R-L from four Asian Indian families, describing clinical, molecular and radiological features.Methods: All patients underwent clinical examination, MRI brain, and whole exome sequencing to identify causative variants in CSF1R gene. We also reviewed published Indian cases with CSF1R-L.Results: Age at enrolment ranged from 34-40 years. Duration of symptoms ranged from 11 months to 2 years. The chief clinical phenotype in three patients was a rapidly evolving cognitive-behavioural syndrome combined with atypical parkinsonism, and asymmetrical spastic tetraparesis in one patient. We identified four different variants (three missense, one inframe deletion). Radiological findings demonstrated white matter involvement, and diffusion restriction involving subcortical white matter and pyramidal tracts.Conclusions: We expand the literature from India with four new cases of CSF1R-L.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433272","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

Drug Repositioning and Repurposing for Disease-Modifying Effects in Parkinson's Disease.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-02-07 DOI: 10.14802/jmd.25008

Seong Ho Jeong, Phil Hyu Lee

{"title":"Drug Repositioning and Repurposing for Disease-Modifying Effects in Parkinson's Disease.","authors":"Seong Ho Jeong, Phil Hyu Lee","doi":"10.14802/jmd.25008","DOIUrl":"https://doi.org/10.14802/jmd.25008","url":null,"abstract":"Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder and is characterized by progressive dopaminergic and non-dopaminergic neuronal loss and the presence of Lewy bodies, which are primarily composed of aggregated α-synuclein. Despite advancements in symptomatic therapies, such as dopamine replacement and deep brain stimulation, no disease-modifying therapies (DMTs) have been identified to slow or arrest neurodegeneration in PD. Challenges in DMT development include disease heterogeneity, the absence of reliable biomarkers, and the multifaceted pathophysiology of PD, encompassing neuroinflammation, mitochondrial dysfunction, lysosomal impairment, and oxidative stress. Drug repositioning and repurposing strategies using existing drugs for new therapeutic applications offer a promising approach to accelerate the development of DMTs for PD. These strategies minimize time, cost, and risk by using compounds with established safety profiles. Prominent candidates include glucagon-like peptide-1 receptor agonists, dipeptidyl peptidase-4 inhibitors, ambroxol, calcium channel blockers, statins, iron-chelating agents, c-Abl inhibitors, and memantine. Although preclinical and early clinical studies have demonstrated encouraging results, numerous phase III trials have yielded unfavorable outcomes, elucidating the complexity of PD pathophysiology and the need for innovative trial designs. This review evaluates the potential of prioritized repurposed drugs for PD, focusing on their mechanisms, preclinical evidence, and clinical trial outcomes, and highlights the ongoing challenges and opportunities in this field.","PeriodicalId":16372,"journal":{"name":"Journal of Movement Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365024","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

Spastic paraplegia 82 in two Asian Indian siblings with PCYT2 mutation.

IF 2.5 4区医学

Journal of Movement Disorders Pub Date : 2025-01-31 DOI: 10.14802/jmd.24259

Anil Dash, Farsana Mustafa, Divyani Garg, Sreeja Samineni, Ayush Agarwal, Ajay Garg, Achal Kumar Srivastava

引用次数: 0