Parkinsonism & related disorders最新文献

{"title":"Corrigendum to “Genetics of upper limb tremor in clinical practice: a systematic literature review” [Parkinsonism and Related disorders volume “in press” (2025) PRD 107981]","authors":"Cheryl S.J. Everlo , Marina A.J. Tijssen , Baran Emre , Sophieke A.J. Heida , Connie Marras , Christine Klein , Jeroen de Vries , Corien C. Verschuuren-Bemelmans , Dineke S. Verbeek , Tom J. de Koning , A.M. Madelein van der Stouwe","doi":"10.1016/j.parkreldis.2025.108050","DOIUrl":"10.1016/j.parkreldis.2025.108050","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"140 ","pages":"Article 108050"},"PeriodicalIF":3.4,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159063","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":"VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's disease.","authors":"Lorenzo Malfer, Capucine Piat, Eduardo E Benarroch, Owen A Ross, Zhiyv Niu, Tina Liu, Rodolfo Savica","doi":"10.1016/j.parkreldis.2025.108061","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.108061","url":null,"abstract":"<p><strong>Objective: </strong>To report a clinical series of four patients diagnosed with early-onset Parkinson's disease (EOPD) who exhibit heterozygous pathogenic variants in the VPS13C gene.</p><p><strong>Background: </strong>VPS13C encodes vacuolar protein sorting 13C, a lipid transport protein that localizes between the endoplasmic reticulum and endosomes-lysosomes, functioning as a bridge to allow phospholipids to traverse the cytosol. Mutations in this gene have been associated with early-onset PARK23 and dementia with Lewy bodies (DLB), highlighting its importance in mitochondrial and lysosomal homeostasis.</p><p><strong>Methods: </strong>Cases were identified through the Mayo Clinic Data Explorer. We included all subjects with a clinical diagnosis of PD who tested positive for a heterozygous VPS13C variant defined as pathogenic by the ACMG guidelines.</p><p><strong>Results: </strong>DaT-SCAN imaging was consistent with PD diagnosis in three patients. Non-motor symptoms and cognitive impairment were prominent phenotypical characteristics in all cases: all the patients presented with insomnia, anxiety, depression, severe fatigue, and short-memory loss. The response to oral levodopa treatment was suboptimal, with an initial benefit followed by rapid decreased responsiveness. Additionally, two patients developed wearing-off episodes and one of them also exhibited treatment-induced dyskinesias.</p><p><strong>Conclusion: </strong>We hypothesize that VPS13C may confer an increased risk of EOPD in carriers of pathogenic variants, and may function as a phenotype modifier gene, contributing to significant non-motor symptoms development and suboptimal levodopa response. Specifically, we propose that the suboptimal treatment response is associated with a decrease level of dopamine L-type amino acid transporter 1 (LAT1).</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108061"},"PeriodicalIF":3.4,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177498","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":"Diverse paths of phenotypic evolution in functional movement disorders: A longitudinal perspective.","authors":"Daniel S Marín-Medina, Gala Lopez, Malco Rossi, Marcelo Merello","doi":"10.1016/j.parkreldis.2025.108059","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.108059","url":null,"abstract":"<p><strong>Introduction: </strong>Functional Movement Disorders (FMD) exhibit a variable course over time. Understanding FMD phenotype trajectories may improve knowledge of its natural history and prognosis.</p><p><strong>Methods: </strong>Retrospective study of FMD patients seen at a tertiary movement disorders clinic (2011-2024). Motor symptoms before the first consultation T(-1), FMD phenotype at first consultation T(0), and FMD phenotype at last consultation T(1), were considered. We compared the clinical and demographic characteristics of patients who modified the phenotype from T(0)→T(1) versus those who did not.</p><p><strong>Results: </strong>Among 112 patients (81.2 % female, mean age at onset 46.0 ± 18.8 years), the most common FMD phenotypes were mixed, tremor, and dystonia, with a median time from onset to T(0) of 15 (8-48) months, and follow-up of 21.7 (7.9-54.8) months. Motor symptoms at T(-1) were mainly tremor and gait disorders. One-third of patients had changed the motor symptoms from T(-1)→T(0), mostly to mixed forms. From T(0)→T(1), 13.2 % of patients displayed a change in the phenotype, mainly from dystonia, tremor, and parkinsonism to mixed FMD. Family dysfunction, variability within the same phenotype, change in location, and worse patient-reported status were more frequent in patients with phenotype modification. Logistic multivariable analysis showed that functional dystonia at T(0), adjusted for within-phenotype movement variability, predicted phenotype modification.</p><p><strong>Conclusions: </strong>FMD patients often showed changes in phenotype over time, tending toward more mixed forms. Certain clinical features may help predict these changes, emphasizing the importance of continued follow-up.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108059"},"PeriodicalIF":3.4,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138421","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":"Visuospatial impairment in Parkinson's Disease: why we should keep an eye on it.","authors":"Henrique Soares Dutra Oliveira, Sarah Teixeira Camargos, Francisco Cardoso, Paulo Caramelli","doi":"10.1016/j.parkreldis.2025.108064","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.108064","url":null,"abstract":"<p><p>Visuospatial dysfunction is a common yet underappreciated non-motor manifestation of Parkinson's disease (PD) that significantly impacts quality of life and predicts cognitive deterioration. While motor symptoms have long dominated the clinical landscape, accumulating evidence highlights that deficits in visuospatial processing can emerge even in cognitively intact individuals and frequently worsen as the disease progresses to mild cognitive impairment and dementia. This review synthesizes evidence from neuropsychological, neuroimaging, and clinical studies to illustrate the widespread prevalence and prognostic importance of visuospatial dysfunction in PD. We discuss the limitations of current screening tools, the diagnostic utility of specific tests, and the underlying neural mechanisms involving visuospatial dysfunction. Beyond diagnosis, we emphasize the functional consequences of visuospatial deficits, including increased fall risk, impaired navigation, and loss of autonomy. Finally, we call for the systematic integration of visuospatial assessment in clinical practice and research, as well as the development of accessible, ecologically valid, and technologically advanced tools to better address this pivotal domain.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108064"},"PeriodicalIF":3.4,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150363","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":"Objective real-world mobility patterns in Parkinson's disease: Driving and walking after levodopa dosing","authors":"Jun Ha Chang ,&nbsp;Ergun Y. Uc ,&nbsp;Christopher L. Shaffer ,&nbsp;Matthew Rizzo","doi":"10.1016/j.parkreldis.2025.108055","DOIUrl":"10.1016/j.parkreldis.2025.108055","url":null,"abstract":"<div><h3>Introduction</h3><div>Levodopa is the primary treatment for motor symptoms in Parkinson's disease (PD), yet its real-world effects on activities of daily living (ADLs) across the day remain unclear. This study used continuous real-world monitoring to examine how levodopa dosing influences walking (basic ADL) and driving (instrumental ADL) in individuals with PD.</div></div><div><h3>Methods</h3><div>In a four-week observational study, 24 participants with early-stage PD underwent continuous monitoring of walking and driving using in-vehicle sensors, wrist-worn actigraphy, and medication logs. Activity was analyzed in 30-min intervals up to 4 h post-dose. Mixed-effects models assessed associations between time since last dose and activity, stratified by morning (wake to 1 p.m.) and afternoon (1 p.m. to bedtime), adjusting for age, sex, employment, motor severity, and levodopa equivalent daily dose (LEDD).</div></div><div><h3>Results</h3><div>Morning activity increased significantly post-medication, peaking at 120–150 min. Afternoon activity declined: driving likelihood decreased by 120 min, and walking declined by 180 min, reaching the lowest levels at 210–240 min. Higher motor symptom severity (MDS-UPDRS Part III) was associated with reduced walking but not driving.</div></div><div><h3>Conclusion</h3><div>Real-world mobility data reveal distinct time-of-day patterns in levodopa's effects. Morning doses yielded greater benefit, while afternoon effects diminished. Aligning medication timing with functional demands and integrating continuous monitoring may improve PD management.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"140 ","pages":"Article 108055"},"PeriodicalIF":3.4,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145159058","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":"Healthcare access and utilization of deep brain stimulation and supplementary care in black and white patients with Parkinson's disease","authors":"Tao Xie ,&nbsp;Chuanhong Liao ,&nbsp;Mahesh Padmanaban ,&nbsp;Julie Johnson ,&nbsp;Kyla Booker ,&nbsp;Mie Rizig ,&nbsp;Widad Abou Chaar ,&nbsp;Jonathan Bundy ,&nbsp;Heather Leeper ,&nbsp;Ivan Guan ,&nbsp;Peter Warnke ,&nbsp;Brian C. Chiu","doi":"10.1016/j.parkreldis.2025.108057","DOIUrl":"10.1016/j.parkreldis.2025.108057","url":null,"abstract":"<div><h3>Background</h3><div>Information comparing healthcare access and utilization between Black and White patients with Parkinson's disease (PD), particularly for deep brain stimulation (DBS) and supplementary care, remains sparse due to the lack of large Black population in a majority of healthcare facilities and limited scope of information in electronic datasets. We hypothesized that Black PD patients are less likely to have implantation for DBS due to many reasons, including ones not explored yet such as a lower likelihood of being assessed for DBS and/or acceptance for DBS when indicated, but more likely to have supplementary care.</div></div><div><h3>Methods</h3><div>We searched electronic medical records in our tertiary center between January 1, 2006 and October 1, 2021, followed by chart reviewing and extracting demographics, socioeconomic status, comorbidities, and healthcare access and utilization, including medications, DBS and supplementary care. Of 2827 patients in records, 1211 were assessed by movement neurologists here, who verified the diagnosis in 882 of them (72.8 %). We included 846 patients (95.9 %) (Black/White 255/591) with needed information for analysis.</div></div><div><h3>Results</h3><div>Compared to White patients, Black patients lacked male predominance, had lower socioeconomic status, more comorbidities, and frequent care in emergency/inpatient settings. There was no difference in overall medication use, but Black patients were less likely to have implantation and evaluation for DBS, and to accept DBS when indicated, and more likely to have supplementary care.</div></div><div><h3>Conclusions</h3><div>Black patients are less likely to have DBS implantation, evaluation, and acceptance but more likely to have supplementary care compared to White patients. These new findings could help improve healthcare.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"140 ","pages":"Article 108057"},"PeriodicalIF":3.4,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118813","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":"Symptom onset lateralization and bilaterality in Parkinson's disease: Clinical implications of motor and non-motor profiles","authors":"Halil Onder,&nbsp;Tuba Kuz Teksut,&nbsp;Zehra Yavuz,&nbsp;Nursu Erdogan,&nbsp;Selcuk Comoglu","doi":"10.1016/j.parkreldis.2025.108056","DOIUrl":"10.1016/j.parkreldis.2025.108056","url":null,"abstract":"<div><h3>Background</h3><div>Although motor symptom asymmetry is a hallmark of Parkinson's disease (PD), the clinical relevance of symptom-onset laterality—particularly with respect to handedness and bilateral onset—remains underexplored.</div></div><div><h3>Objective</h3><div>To determine how symptom-onset patterns—right vs. left, dominant vs. non-dominant, and bilateral vs. unilateral—relate to motor and non-motor clinical features in PD.</div></div><div><h3>Methods</h3><div>We retrospectively analysed 460 PD patients. Onset side and handedness were recorded from history; standardised assessments included MDS-UPDRS, HY, NMSS, and PDQ-39. Multivariate logistic regression identified independent correlates of onset side.</div></div><div><h3>Results</h3><div>Right-sided onset predicted higher ON-state motor burden (MDS-UPDRS Part 3; OR = 1.48, 95 % CI 1.05–2.09, p = 0.025). A similar association was seen for dominant-side onset (OR = 1.46, 95 % CI 1.04–2.06, p = 0.029). Bilateral onset—observed in 4 % of the cohort yet often excluded from prior studies—displayed a distinct profile: akinetic-rigid phenotype (OR = 2.13, p = 0.008), HY stage ≥3 (OR = 2.40, p = 0.025), and greater mood/cognition burden on the NMSS (OR = 2.36, p = 0.022). Conversely, bilateral onset was inversely related to OFF-state MDS-UPDRS Part 3 scores (OR = 0.31, p = 0.029).</div></div><div><h3>Conclusions</h3><div>Symptom-onset lateralization in PD carries clinically meaningful implications. Dominant-side onset signals higher residual motor impairment despite dopaminergic therapy, whereas bilateral onset marks a more advanced, non-tremor–dominant phenotype with prominent mood–cognition involvement. Systematic inclusion of bilateral cases and consideration of handedness enhance patient stratification and may inform prognostic counseling and therapeutic planning.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"140 ","pages":"Article 108056"},"PeriodicalIF":3.4,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118810","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 and psychiatric profile in a Brazilian case of SNCA duplication","authors":"Flávia de Paiva Santos Rolim ,&nbsp;Sylvio Ricard Gonçalves de Souza Lima ,&nbsp;Ana Silvia Sobreira Lima Verde ,&nbsp;Paulo Sérgio Alves Lisboa ,&nbsp;Ingrid César Fernandes ,&nbsp;Paula Camila A.A.P. Matos ,&nbsp;Verônica Tavares Aragão ,&nbsp;André Borges Ferreira Gomes ,&nbsp;Norberto Anizio Ferreira Frota ,&nbsp;Sarah Teixeira Camargos ,&nbsp;Artur F. Schumacher Schuh ,&nbsp;Fernanda Martins Maia Carvalho","doi":"10.1016/j.parkreldis.2025.108058","DOIUrl":"10.1016/j.parkreldis.2025.108058","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"140 ","pages":"Article 108058"},"PeriodicalIF":3.4,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150386","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 Progressive Supranuclear Palsy Clinical Deficits Scale accurately reflects functional as well as patient- and caregiver-reported outcomes","authors":"Yi Zhe Lim ,&nbsp;Su Juen Ngim ,&nbsp;Jeremy Christopher Fernandiz ,&nbsp;Alfand Marl F. Dy Closas ,&nbsp;Tzi Shin Toh ,&nbsp;Anis Nadhirah Khairul Anuar ,&nbsp;Emily Siew Wen Chang ,&nbsp;Johnny Jun Wei Cheok ,&nbsp;Yi Wen Tay ,&nbsp;Hans Xing Ding ,&nbsp;Jie Ping Schee ,&nbsp;Grace Sze Ern Chu ,&nbsp;Lei Cheng Lit ,&nbsp;Ai Huey Tan ,&nbsp;Shen-Yang Lim","doi":"10.1016/j.parkreldis.2025.108060","DOIUrl":"10.1016/j.parkreldis.2025.108060","url":null,"abstract":"<div><h3>Background</h3><div>Progressive supranuclear palsy (PSP) is a common atypical parkinsonian disorder, but a significant gap in clinical and research practice has been the unavailability until very recently of a brief but accurate scale to rate its clinical severity. The 7-item PSP Clinical Deficits Scale (PSP-CDS) offers an efficient method to evaluate PSP clinical severity and can be administered relatively rapidly. However, further validation of this new tool is needed.</div></div><div><h3>Methods</h3><div>Patients with PSP (<em>n</em> = 110; 55.5 % with Richardson syndrome [PSP-RS]) were consecutively recruited at a quaternary centre in Malaysia. We examined the correlations between the PSP-CDS and measures of patients’ functional status, using the Barthel Index (which is generic, brief, and clinician rated) and the Cortical Basal ganglia Functional Scale (CBFS; which is disease-specific, more comprehensive, and patient/caregiver reported).</div></div><div><h3>Results</h3><div>There were strong correlations between the PSP-CDS vs. the Barthel Index (r_s = −0.81) and the CBFS (r_s = 0.64) (both P &lt; 0.001). In a <em>post hoc</em> analysis of individual items of the PSP-CDS and Barthel Index and CBFS, significant (and also mostly strong) correlations were observed, in the motor as well as non-motor domains.</div></div><div><h3>Conclusions</h3><div>The strong correlations between PSP disease severity as measured by the PSP-CDS vs. generic and disease-specific measures of functional status, rated by clinicians and patients and caregivers, provide further support for the PSP-CDS as a valid and efficient instrument. More widespread use of such tools can help to address the global gap of inadequate phenotyping of patients in routine clinical and research practice.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"140 ","pages":"Article 108060"},"PeriodicalIF":3.4,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118814","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 - Expert commentary.","authors":"Giulietta M Riboldi, Steven J Frucht","doi":"10.1016/j.parkreldis.2025.108063","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.108063","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108063"},"PeriodicalIF":3.4,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145192295","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}