Parkinsonism & related disorders最新文献

{"title":"Convergence insufficiency and Parkinson's disease progression","authors":"Alba Herrero-Gracia ,&nbsp;Rosa Hernández-Andrés ,&nbsp;María José Luque ,&nbsp;Kenneth J. Ciuffreda ,&nbsp;M Amparo Díez-Ajenjo","doi":"10.1016/j.parkreldis.2025.107341","DOIUrl":"10.1016/j.parkreldis.2025.107341","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) is a chronic, neurodegenerative disorder that significantly affects motor, sensory, and vision functions. Convergence insufficiency (CI) may be an indicator of PD progression. This study aimed to explore the relationship between CI and the stages of PD progression, as measured by the Hoehn and Yahr scale, and to compare the prevalence of CI and vision parameters between healthy individuals and PD patients.</div></div><div><h3>Methods</h3><div>Age-matched healthy controls (n = 97) and PD patients (n = 71) underwent medical history evaluations and vision assessments. Statistical analyses were conducted to compare CI prevalence across the Hoehn and Yahr stages between the control and PD groups. Binary logistic regression was used to evaluate the increase in CI prevalence as PD stages advanced.</div></div><div><h3>Results</h3><div>Significant differences in CI prevalence were noted between the control group (CG) and the PD group (PG), particularly in Stage III (p &lt; .001) and overall (p &lt; .001). The prevalence of CI increased with advancing PD stages (p &lt; .001). In Stage I, CI emerged as the only significant factor, while Stages II and III revealed significant differences in multiple vergence-related parameters. Logistic regression revealed increased odds of CI correlating with advancing Hoehn and Yahr stages (p &lt; .007).</div></div><div><h3>Conclusion</h3><div>A significant association was found between CI and PD progression. These findings underscore the importance of standardized assessment methods and the need for longitudinal research. Regular vision evaluations are essential for effectively managing CI and related vergence deficits in patients with PD.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107341"},"PeriodicalIF":3.1,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cognitive measures predict falls in Parkinson's disease: Insights from the CYCLE-II cohort","authors":"Saar Anis ,&nbsp;Eric Zimmerman ,&nbsp;A. Elizabeth Jansen ,&nbsp;Ryan D. Kaya ,&nbsp;Hubert H. Fernandez ,&nbsp;Cielita Lopez-Lennon ,&nbsp;Leland E. Dibble ,&nbsp;Anson B. Rosenfeldt ,&nbsp;Jay L. Alberts","doi":"10.1016/j.parkreldis.2025.107328","DOIUrl":"10.1016/j.parkreldis.2025.107328","url":null,"abstract":"<div><h3>Background</h3><div>Accurate prediction of falls in patients with Parkinson's disease (PWP) is crucial for effective prevention efforts. Historically, fall risk models have heavily relied on motor features, overlooking the vital cognitive-motor interplay essential for locomotion.</div></div><div><h3>Methods</h3><div>Baseline assessments and year-long fall data from the CYClical Lower Extremity Exercise for Parkinson's disease II (CYCLE-II) trial's control group were utilized. A LASSO logistic regression model assessed thirty-seven demographic, motor, and cognitive variables to identify key fall predictors. To explore the practical implementation of predicting falls in a clinical setting, a second model was developed using a subset of nine candidate measures conducive for retrieval from electronic medical records. Models' accuracy was validated against Paul et al.'s 3-step fall prediction model.</div></div><div><h3>Results</h3><div>Analysis included 123 participants (mean age 65.3 ± 8.3 years, 66 % males, mean disease duration 4.9 ± 4.1 years). Seventy-two participants (58.5 %) fell at least once; with 33.1 % occurring during walking, 34.4 % resulting in injuries. The initial model identified 8 predictors with an AUC of 0.68. The second model, incorporating disease duration and cognitive tests, achieved an AUC of 0.67, comparable to Paul et al.'s validation (AUC 0.66). Participants with poorer information processing and spatial memory were more prone to falling over the 12-month period.</div></div><div><h3>Conclusions</h3><div>Impaired cognitive performance and longer disease duration were powerful predictors in identifying a future fall in PWP. The link between cognitive performance and potential for falling reinforces the strong interplay between gait and cognition.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107328"},"PeriodicalIF":3.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infantile-onset choreo-dystonia due to a novel homozygous truncating HPCA variant: A first report from India.","authors":"Vikram V Holla, Sandeep Gurram, Sneha D Kamath, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal","doi":"10.1016/j.parkreldis.2025.107329","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107329","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107329"},"PeriodicalIF":3.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor!","authors":"Magdalena Krygier ,&nbsp;Monika Limanówka ,&nbsp;Marta Pietruszka ,&nbsp;Magdalena Chylińska ,&nbsp;Maria Mazurkiewicz-Bełdzińska ,&nbsp;Michael Zech","doi":"10.1016/j.parkreldis.2025.107323","DOIUrl":"10.1016/j.parkreldis.2025.107323","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107323"},"PeriodicalIF":3.1,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correspondence to \"The association between cigarette smoking and dementia with Lewy bodies\".","authors":"Lazzaro di Biase, Pasquale Maria Pecoraro, Vincenzo Di Lazzaro","doi":"10.1016/j.parkreldis.2025.107326","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107326","url":null,"abstract":"<p><p>Our pathology-validated study on Parkinson's disease aligns with recently reported findings in dementia with Lewy bodies regarding an inverse association with smoking. Understanding this epidemiological relationship is crucial for uncovering potential pathogenic mechanisms in α-synucleinopathies, emphasizing the need for rigorous studies that integrate neuropathological validation and address diagnostic uncertainty.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107326"},"PeriodicalIF":3.1,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy.","authors":"Riya Sharma, C V Sai Teja, Aditya Nayan, Manoj K Goyal, Karthik V Mahesh, Ritu Shree, Chirag K Ahuja, Manish Modi","doi":"10.1016/j.parkreldis.2025.107313","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107313","url":null,"abstract":"<p><p>Adrenoleukodystrophy is the most common peroxisomal disorder of beta oxidation with highly complex clinical presentation across different ages of life challenging the diagnostic skills of neurologists. We report a 35-year-male with orbitofrontal lobar dysfunction, spastic paraparesis, cerebellar ataxia and characteristic perioral and palatal tremor with dentate nuclei calcification in imaging.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107313"},"PeriodicalIF":3.1,"publicationDate":"2025-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The HALP score differs among sporadic and familial Parkinson's disease","authors":"Wen Zhou,&nbsp;Qingqing Xia,&nbsp;Duan Liu,&nbsp;Jun ying Li,&nbsp;Liang Gong","doi":"10.1016/j.parkreldis.2025.107305","DOIUrl":"10.1016/j.parkreldis.2025.107305","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting quality of life. The onset of PD is thought to result from a multifaceted convergence of aging, genetic predisposition, and environmental exposure. The hemoglobin, albumin, lymphocyte, and platelet (HALP) score, a specific measure of inflammation and nutrition, has been identified in the literature. No study has determined whether there are differences in inflammation and nutrition between sporadic and familial forms of PD.</div></div><div><h3>Methods</h3><div>A cross-sectional study was conducted involving 1036 participants from Parkinson's Progression Markers Initiative (PPMI), including sporadic PD (sPD) and familial PD (fPD). Data on demographics (age, sex, race, years of education, BMI, age of onset), clinical characteristics (Hoehn and Yahr Scale, Movement Disorder Society-Unified Parkinson's Disease Rating Scale(MDS-UPDRS) Part III Score, MDS-UPDRS Total Score, Montreal Cognitive Assessment, Epworth Sleepiness Scale Score, Geriatric Depression Scale Score, Rapid Eye Movement(REM) Sleep Behavior Disorder Questionnaire Score, caudate nucleus uptake value on dopamine transporter scan, putamen uptake value on dopamine transporter scan, striatum uptake value on dopamine transporter scan), and laboratory parameters (hemoglobin, lymphocytes, monocytes, neutrophils, platelets, blood glucose, uric acid, total protein, urea nitrogen, and albumin) were collected from all participants. Logistic regression and smooth curve fitting analyses were used to support the research objective.</div></div><div><h3>Results</h3><div>A total of 1036 patients aged between 29.26 and 85.88 years were included in the analysis. A high HALP level was associated with an increased risk of fPD (per 10 units: OR = 1.18, 95 % CI = 1.07–1.29, P = 0.001), after adjustment for potential confounders. In multivariable logistic regression analyses, the risk of fPD occurring in Q3 was 1.8 times that in the Q1 group (OR = 1.8, 95 % CI = 1.16–2.78, P = 0.009). In addition, the results of the subgroup and sensitivity analysis were robust.</div></div><div><h3>Conclusion</h3><div>This study highlights that HALP levels are associated with an increased risk of fPD, independent of confounders.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107305"},"PeriodicalIF":3.1,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143378567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunomodulatory effects of invasive and non-invasive brain stimulation in Parkinson's disease.","authors":"Evridiki Asimakidou, Christos Sidiropoulos","doi":"10.1016/j.parkreldis.2025.107314","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107314","url":null,"abstract":"<p><p>Accumulating evidence points to a critical role of the immune system in the neurodegenerative process in Parkinson's disease (PD). This late knowledge has revolutionised our understanding of the pathogenetic mechanisms underlying PD and has opened new avenues toward disease-modifying rather than dopamine-replacement therapeutic approaches. When pharmacological treatments fail to adequately alleviate clinical symptoms, brain stimulation techniques are taken into consideration. Deep brain stimulation (DBS) constitutes the most common method for invasive brain stimulation, while the non-invasive brain stimulation paradigms comprise among others repetitive transcranial magnetic stimulation (rTMS), transcranial direct current stimulation (tDCS) and transcranial alternating current stimulation (tACS). How each brain stimulation paradigm interferes with disease pathogenesis still remains elusive. In light of recent evidence supporting the involvement of the immune system in PD, a question that arises is whether brain stimulation techniques have an immunomodulatory potential. Here, we summarize the existing knowledge and provide mechanistic insights that should foster future research. Overall, it appears that DBS and rTMS can modulate both the central and the peripheral component of the immune system and can lead to clinical improvement through immunosuppressive/anti-inflammatory mechanisms. The paucity of evidence for tDCS and tACS precludes any conclusions and highlights the necessity of more mechanistic studies focusing on their immunomodulatory potential, if any. Any pre-clinical findings warrant further clinical validation using human in vivo markers and post-mortem human brain tissue. Unravelling the mechanisms that underpin the beneficial therapeutic effects of brain stimulation in PD patients can contribute substantially to the fine-tuning of the current stimulation protocols and pave the way for more efficient and clinically meaningful neuromodulation paradigms.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107314"},"PeriodicalIF":3.1,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myoclonus, dystonia and parkinsonism due to a de novo novel variant in the NUS1 gene: Furthering the epilepsy-dyskinesia spectrum.","authors":"Divyani Garg, Sampurna Chowdhury, Sreeja Samineni, Ayush Agarwal, Achal Kumar Srivastava","doi":"10.1016/j.parkreldis.2025.107320","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107320","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107320"},"PeriodicalIF":3.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of patient characteristics, social drivers of health, and geographic location on access to device-aided therapies among medicare beneficiaries with advanced Parkinson's disease","authors":"Joohi Jimenez-Shahed ,&nbsp;Irene A. Malaty ,&nbsp;Michael Soileau ,&nbsp;Connie H. Yan ,&nbsp;Lakshmi Kandukuri ,&nbsp;Jill Schinkel ,&nbsp;Christie Teigland ,&nbsp;Megha B. Shah ,&nbsp;Pavnit Kukreja ,&nbsp;Aaron Hambrick ,&nbsp;Hubert H. Fernandez","doi":"10.1016/j.parkreldis.2025.107322","DOIUrl":"10.1016/j.parkreldis.2025.107322","url":null,"abstract":"<div><h3>Introduction</h3><div>Surgical device-aided therapies (DATs), including carbidopa-levodopa enteral suspension (CLES) and deep brain stimulation (DBS), are efficacious treatment options for people with advanced Parkinson's disease (aPD). While provider and patient preference influence treatment choices, DAT use remains low and social drivers of health (SDOH) may present barriers to access. This study aimed to evaluate the relationship of patient characteristics and SDOH—including geographic distance to facilities that provide DATs—with likelihood of receiving DAT.</div></div><div><h3>Methods</h3><div>Adults diagnosed with PD and meeting aPD clinical indicators were identified among 100 % Medicare Fee-for-Service beneficiaries linked to Inovalon's SDOH data warehouse between 01/01/2018-12/31/2020. Multivariate logistic regression models determined factors associated with DAT vs no-DAT initiation.</div></div><div><h3>Results</h3><div>Of 503,245 Medicare beneficiaries with PD, 22 % met proxy criteria for aPD, with 2 % (2450) receiving DAT (CLES 24 %; DBS 76 %). Nationwide aPD prevalence was 309 per 100,000 Medicare beneficiaries. There were 413 DAT facilities nationwide (average 8 facilities/state), and aPD patients traveled 98 miles on average to a facility (range 11–255 miles). aPD patients under age 75 were 2-3x more likely to receive DAT, while those identifying as female, Black race, have moderate to severe comorbidity, and lower household incomes were less likely to receive DAT.</div></div><div><h3>Conclusions</h3><div>Findings suggest low utilization of DATs among US Medicare beneficiaries with aPD. Even states with more DAT facilities often require patients to travel long distances. Identifying and minimizing access disparities, particularly for women, racial minorities, and people with low socioeconomic status may improve DAT utilization and outcomes for patients with aPD.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107322"},"PeriodicalIF":3.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}