Parkinsonism & related disorders最新文献

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Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-11 DOI: 10.1016/j.parkreldis.2025.107790
Marya S. Sabir , Mary B. Makarious , Marjan Huizing , William A. Gahl , Frances M. Platt , May Christine V. Malicdan
{"title":"Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk","authors":"Marya S. Sabir ,&nbsp;Mary B. Makarious ,&nbsp;Marjan Huizing ,&nbsp;William A. Gahl ,&nbsp;Frances M. Platt ,&nbsp;May Christine V. Malicdan","doi":"10.1016/j.parkreldis.2025.107790","DOIUrl":"10.1016/j.parkreldis.2025.107790","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) is a neurodegenerative disorder characterized by dopaminergic neuron loss and α-synuclein aggregation. Aging is the primary risk factor, with both rare and common genetic variants playing a role. Previous studies have implicated lysosomal storage disorder (LSD)-related genes, including <em>SLC17A5,</em> in PD susceptibility.</div></div><div><h3>Objective</h3><div>This study aimed to investigate the association of <em>SLC17A5</em> variants, including rare and common variants and the FSASD-associated p.Arg39Cys missense variant, with PD risk in large European ancestry cohorts.</div></div><div><h3>Methods</h3><div>Rare variant burden analyses were performed at minor allele frequency (MAF) thresholds of ≤1 % and ≤0.1 % in 7,184 PD cases and 51,650 controls using whole-genome and whole-exome sequencing data. Association testing of the p.Arg39Cys variant was conducted across five cohorts, encompassing both Finnish and non-Finnish Europeans. Common variant associations were examined using summary statistics from the largest European GWAS of PD.</div></div><div><h3>Results</h3><div>No significant association was observed between rare <em>SLC17A5</em> variants and PD at either MAF threshold. The p.Arg39Cys variant, though enriched in Finnish Europeans, showed no significant association with PD across several cohorts. Similarly, common <em>SLC17A5</em> variants (MAF ≥1%) were not associated with PD risk.</div></div><div><h3>Conclusion</h3><div>Our findings do not support a role for <em>SLC17A5</em> variants in PD susceptibility. While lysosomal dysfunction is central to PD pathogenesis, its contribution appears pathway-specific, with <em>SLC17A5</em> unlikely to influence risk. Larger, multiethnic studies and functional analyses are needed to further investigate sialic acid metabolism in PD and related disorders.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107790"},"PeriodicalIF":3.1,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143621191","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}
引用次数: 0
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-11 DOI: 10.1016/j.parkreldis.2025.107781
Efthymia Kafantari , Victoria J. Hernandez , Ján Necpál , Marina Leonidou , Regina Baureder , Carola Hedberg-Oldfors , Robert Jech , Michael Zech , Thomas U. Schwartz , Andreas Puschmann
{"title":"TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism","authors":"Efthymia Kafantari ,&nbsp;Victoria J. Hernandez ,&nbsp;Ján Necpál ,&nbsp;Marina Leonidou ,&nbsp;Regina Baureder ,&nbsp;Carola Hedberg-Oldfors ,&nbsp;Robert Jech ,&nbsp;Michael Zech ,&nbsp;Thomas U. Schwartz ,&nbsp;Andreas Puschmann","doi":"10.1016/j.parkreldis.2025.107781","DOIUrl":"10.1016/j.parkreldis.2025.107781","url":null,"abstract":"<div><div>Dystonia is a movement disorder characterized by genetic and clinical heterogeneity. A recurring p.(Glu303del)-deletion in <em>TOR1A</em> is a well-established cause for DYT-<em>TOR1A</em> (DYT1), an autosomal dominant early-onset isolated dystonia. <em>TOR1A</em> encodes TorsinA, an AAA + ATPase located in the nuclear envelope. By whole exome analyses of a family with a novel dystonia-hemichorea-/hemiballism phenotype, we identified a <em>TOR1AIP2</em> NM_001199260.2 c.1234A &gt; G p.(Arg412Gly) variant. The variant is very rare in databases and was absent from whole exome data from &gt;1000 dystonia patients. <em>TOR1AIP2</em> encodes LULL1, a transmembrane protein that activates TorsinA, and correct interaction between TorsinA and LULL1 is essential for proper nuclear envelope architecture. The p.(Arg412Gly) variant disrupts the binding interface between TorsinA and LULL1 around p.Arg412; this same interface is also impaired in DYT1. Functional analyses via a co-purification assay revealed that interaction between TorsinA-LULL1<sup>Arg412Gly</sup> is weaker than the wild-type interaction, and that it resembles the situation in DYT1 (TorsinA<sup>ΔE303</sup>-LULL1). A second family with milder dystonia, hemichorea, and stereotypic leg flexion during gait and a <em>TOR1AIP2</em> p.(Gln338His) variant was identified. The clinical phenotype of both families shared proximal arm movements, and flutter in facial musculature. Expressivity of the movement disorder symptoms was variable. Several proteins in the nuclear envelope have been implicated in various forms of neurodevelopmental disorders with dystonia. Taken together, our findings suggest <em>TOR1AIP2</em> as a new candidate gene implicated in a complex hereditary movement disorder with dystonia and hemichorea/hemiballism.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107781"},"PeriodicalIF":3.1,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143621503","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}
引用次数: 0
The impact of bright light therapy on Parkinson's disease: A pilot study using vestibular-evoked myogenic potentials 强光疗法对帕金森病的影响:使用前庭诱发肌源性电位的试点研究
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-10 DOI: 10.1016/j.parkreldis.2025.107776
Wei-ye Xie , Wen-xiang Duan , Ying Chen , Meng-xing Tao , Han-xing Li , Fan Gao , Jie-yun Yin , Jia-hui Yan , Fen Wang , Cheng-jie Mao , Yun Shen , Chun-feng Liu
{"title":"The impact of bright light therapy on Parkinson's disease: A pilot study using vestibular-evoked myogenic potentials","authors":"Wei-ye Xie ,&nbsp;Wen-xiang Duan ,&nbsp;Ying Chen ,&nbsp;Meng-xing Tao ,&nbsp;Han-xing Li ,&nbsp;Fan Gao ,&nbsp;Jie-yun Yin ,&nbsp;Jia-hui Yan ,&nbsp;Fen Wang ,&nbsp;Cheng-jie Mao ,&nbsp;Yun Shen ,&nbsp;Chun-feng Liu","doi":"10.1016/j.parkreldis.2025.107776","DOIUrl":"10.1016/j.parkreldis.2025.107776","url":null,"abstract":"<div><h3>Introduction</h3><div>Bright light therapy (BLT) has been proved to have beneficial effects on Parkinson's disease (PD). Brainstem pathways improvements might be crucial to BLT, but the mechanisms remained unclear. The aim of this study is to validate whether BLT improves clinical symptoms in PD and thus explore the possible mechanisms of brainstem pathways evaluated by vestibular-evoked myogenic potentials (VEMPs).</div></div><div><h3>Methods</h3><div>A total of 22 PD patients participated were enrolled in this crossover randomized placebo-controlled study. Participants received either one month of BLT or dim light therapy (DLT), separated by a 1-month wash-out period, and underwent clinical scales and VEMPs evaluations before and after each intervention. Mixed-effects regression models were used to determine the effect between BLT and DLT on PD patients by the differentials of clinical scales (Δscales) and VEMPs (ΔVEMPs). Correlations between the improvement of clinical symptoms and VEMPs parameters improvements were analyzed in PD patients receiving BLT.</div></div><div><h3>Results</h3><div>Excessive daytime sleepiness, anxiety, life quality and autonomic function were improved after BLT. Compared to DLT, the difference was not significant. There were significant differences of cervical VEMPs (cVEMP) and ocular VEMPs (oVEMP) peak latencies after BLT. Compared with DLT, there was significant difference in ΔLp13, ΔRp13 and ΔLp11 peak latencies after BLT.</div></div><div><h3>Conclusions</h3><div>BLT may be a valuable non-pharmacological intervention for improving brainstem function, thereby enhancing quality of life and overall health in PD patients.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107776"},"PeriodicalIF":3.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628102","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}
引用次数: 0
Effect of an adapted physical activity program in Parkinson's disease: A randomized controlled study (APA-Park)
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-10 DOI: 10.1016/j.parkreldis.2025.107777
Carole Zanchet , Céline Lambert , Thibaut Boyer , Bruno Pereira , Philippe Derost , Bérengère Debilly , Martine Duclos , Nathalie Boisseau , Ana Marques
{"title":"Effect of an adapted physical activity program in Parkinson's disease: A randomized controlled study (APA-Park)","authors":"Carole Zanchet ,&nbsp;Céline Lambert ,&nbsp;Thibaut Boyer ,&nbsp;Bruno Pereira ,&nbsp;Philippe Derost ,&nbsp;Bérengère Debilly ,&nbsp;Martine Duclos ,&nbsp;Nathalie Boisseau ,&nbsp;Ana Marques","doi":"10.1016/j.parkreldis.2025.107777","DOIUrl":"10.1016/j.parkreldis.2025.107777","url":null,"abstract":"<div><h3>Context</h3><div>Previous studies assessing adapted physical activity (APA) in Parkinson's disease (PD) have been very heterogeneous regarding methodology and intervention, and have generally not addressed the question of combining various types of physical activity with a long-term evaluation.</div></div><div><h3>Objectives</h3><div>To evaluate the immediate and long-term effect of a 3-month APA program, combining endurance, resistance training and stretching on motor symptoms, body composition, cardiorespiratory function and metabolic profile in PD patients.</div></div><div><h3>Methods</h3><div>In this controlled trial, we randomly assigned forty-four PD patients in a 1:1 ratio to receive a 3-month APA program (APA + group, n = 22), or freely practice physical activity (APA− group, n = 22). The patients were evaluated for parkinsonian symptoms (UPDRS-III), body composition, cardiorespiratory function and metabolic profile at baseline, immediately after the end of the program (M3) and six months later (M9).</div></div><div><h3>Results</h3><div>Between baseline and M3, the mean UPDRS-III score decreased in PD patients from the APA + group whereas it increased in the APA− group (−1.2 ± 6.6 vs. +1.9 ± 8.9; p = 0.04), regardless of age, sex, disease duration, dopaminergic treatment, UPDRS-III and axial score at baseline, but these between group differences waned at M9. No between group difference was observed regarding the evolution of body composition, metabolic profile or cardiorespiratory function between baseline, M3 and M9.</div></div><div><h3>Conclusion</h3><div>A 3-month APA program combining endurance and resistance training plus stretching is more efficient for improving motor symptoms in PD compared to an unstructured engagement in non-specific physical activities. However, the benefits fade away six months after discontinuation of the program.</div></div><div><h3>Statistical analysis conducted by</h3><div>LAMBERT Céline, CHU Clermont-Ferrand, DRCI, Biostatistics Unit, Clermont-Ferrand, FRANCE.</div></div><div><h3>Registration number</h3><div>clinicaltrials.gov number NCT02816619.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107777"},"PeriodicalIF":3.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143621425","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}
引用次数: 0
Early-onset Parkinson's disease, regional and national burden, and its attributable risk factors in 204 countries and regions from 1990 to 2021: Results from the global burden of disease study 2021 1990 至 2021 年 204 个国家和地区的早发性帕金森病、地区和国家负担及其可归因风险因素:2021 年全球疾病负担研究的结果
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-10 DOI: 10.1016/j.parkreldis.2025.107778
Jiayue Wang , Nan Cheng , Zhen Yao , Jinghan Liu , Xiaoru Kan , Zhenliang Hui , Jun Chen
{"title":"Early-onset Parkinson's disease, regional and national burden, and its attributable risk factors in 204 countries and regions from 1990 to 2021: Results from the global burden of disease study 2021","authors":"Jiayue Wang ,&nbsp;Nan Cheng ,&nbsp;Zhen Yao ,&nbsp;Jinghan Liu ,&nbsp;Xiaoru Kan ,&nbsp;Zhenliang Hui ,&nbsp;Jun Chen","doi":"10.1016/j.parkreldis.2025.107778","DOIUrl":"10.1016/j.parkreldis.2025.107778","url":null,"abstract":"<div><h3>Background</h3><div>Early-Onset Parkinson's Disease (EOPD), defined as diagnosis before age 40, accounts for 5–10 % of Parkinson's cases and is characterized by slower progression and severe motor and non-motor complications. Its global burden has risen significantly, particularly among younger populations, but comprehensive analyses of trends, disparities, and determinants remain scarce.</div></div><div><h3>Methods</h3><div>EOPD burden was examined in 204 countries from 1990 to 2021 using Global Burden of Disease (GBD) 2021 data. Age-standardized rates (ASR) for incidence, mortality, and disability-adjusted life years (DALYs) were computed. Estimated annual percentage change (EAPC) was used to analyze temporal trends. Associations with the Socio-Demographic Index (SDI) were investigated, and projections were made for future trends up to 2035 using time-series models.</div></div><div><h3>Results</h3><div>Global ASRs for incidence, mortality, and DALYs in 2021 were 0.333, 0.006, and 0.461 per 100,000 population, respectively. Incidence and DALYs increased from 1990 to 2021, while mortality fluctuated. Higher burdens were reported in high-SDI regions due to improved detection and longer survival, whereas low-SDI regions faced underdiagnosis and limited healthcare access. Projections suggest a continued rise in EOPD burden, particularly in the 35–39 age group, by 2035.</div></div><div><h3>Conclusion</h3><div>The increasing worldwide burden of EOPD, along with significant regional and socioeconomic inequalities, underscores the pressing necessity for prompt diagnosis, equitable healthcare access, and specific interventions to address this escalating public health issue.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107778"},"PeriodicalIF":3.1,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143621424","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}
引用次数: 0
Quantitative corneal nerve beading analysis: A novel biomarker for Parkinson's disease progression
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-04 DOI: 10.1016/j.parkreldis.2025.107764
Sasi Yaisawang , Inturat Attapinan , Ngamjit Kasetsuwan , Usanee Reinprayoon , Krit Pongpirul , Roongroj Bhidayasiri , Jirada Sringean
{"title":"Quantitative corneal nerve beading analysis: A novel biomarker for Parkinson's disease progression","authors":"Sasi Yaisawang ,&nbsp;Inturat Attapinan ,&nbsp;Ngamjit Kasetsuwan ,&nbsp;Usanee Reinprayoon ,&nbsp;Krit Pongpirul ,&nbsp;Roongroj Bhidayasiri ,&nbsp;Jirada Sringean","doi":"10.1016/j.parkreldis.2025.107764","DOIUrl":"10.1016/j.parkreldis.2025.107764","url":null,"abstract":"<div><div>This study compared corneal nerve beading between Parkinson's disease (PD) patients and healthy controls. Results showed increases in both density and size of nerve beadings in PD, which correlated with disease severity and duration. Corneal nerve beading demonstrated high sensitivity as a potential biomarker for diagnosing and monitoring PD progression.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107764"},"PeriodicalIF":3.1,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143621189","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}
引用次数: 0
Rethinking the role of continuous dopaminergic stimulation in Parkinson disease therapy.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-03-01 DOI: 10.1016/j.parkreldis.2025.107354
Peter A LeWitt
{"title":"Rethinking the role of continuous dopaminergic stimulation in Parkinson disease therapy.","authors":"Peter A LeWitt","doi":"10.1016/j.parkreldis.2025.107354","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107354","url":null,"abstract":"<p><p>This Viewpoint will examine continuous dopaminergic stimulation (CDS), a concept that has long been invoked as the optimal treatment strategy for improving symptomatic control of Parkinson disease (PD) patients experiencing motor fluctuations. The appeal of CDS has always seemed intuitive and is based, in part, on preclinical investigations implicating pulsatile dopaminergic stimulation as causing motor fluctuations and dyskinesia from levodopa (LD) treatment. However, four large-scale randomized controlled clinical trials testing infused drug delivery have demonstrated only partial effectiveness of CDS at reducing daily OFF time. Other clinical trial data has offered evidence that a reduction in OFF time also can be accomplished from targeting sites in motor pathways downstream from the basal ganglia. Neural plasticity and a CNS calcium receptor signaling compound, ophthalmate, may also hold answers to the regulation of OFF time. Finally, insights derived from neural computational modeling of PD motor pathway pharmacology and the involved electrophysiological connections may guide future understanding of motor fluctuations in PD and their management.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107354"},"PeriodicalIF":3.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586642","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}
引用次数: 0
18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant 与 RAB32 S71R 变异相关的帕金森病的 18F-FDG PET 研究结果。
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-28 DOI: 10.1016/j.parkreldis.2025.107343
Francesco Cavallieri , Alessandro Fraternali , Annachiara Arnone , Valentina Fioravanti , Edoardo Monfrini , Francesca Di Biasio , Giulia Toschi , Giulia Di Rauso , Giacomo Portaro , Sara Grisanti , Gaetano Salomone , Teresa Kleinz , Paola Mandich , Jefri J. Paul , Christian Beetz , Peter Bauer , Ji Hyun Ko , Matteo Bauckneht , Andrea Melpignano , Angelina Filice , Franco Valzania
{"title":"18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant","authors":"Francesco Cavallieri ,&nbsp;Alessandro Fraternali ,&nbsp;Annachiara Arnone ,&nbsp;Valentina Fioravanti ,&nbsp;Edoardo Monfrini ,&nbsp;Francesca Di Biasio ,&nbsp;Giulia Toschi ,&nbsp;Giulia Di Rauso ,&nbsp;Giacomo Portaro ,&nbsp;Sara Grisanti ,&nbsp;Gaetano Salomone ,&nbsp;Teresa Kleinz ,&nbsp;Paola Mandich ,&nbsp;Jefri J. Paul ,&nbsp;Christian Beetz ,&nbsp;Peter Bauer ,&nbsp;Ji Hyun Ko ,&nbsp;Matteo Bauckneht ,&nbsp;Andrea Melpignano ,&nbsp;Angelina Filice ,&nbsp;Franco Valzania","doi":"10.1016/j.parkreldis.2025.107343","DOIUrl":"10.1016/j.parkreldis.2025.107343","url":null,"abstract":"<div><h3>Objective</h3><div>The RAB32 S71R variant has been linked to autosomal dominant Parkinson's disease (RAB32-PD), sharing common biological mechanisms with the leucine-rich repeat kinase-2 (LRRK2) gene. Measurement of regional differences in glucose metabolism with 18F-fluorodeoxyglucose (FDG) PET may improve the understanding of the neural mechanisms of RAB32-related PD and non-mutated PD (NM-PD). In this brief communication, we compared FDG-PET findings of eight RAB32-PD with a cohort of NM-PD.</div></div><div><h3>Methods</h3><div>Brain FDG-PET study was performed during the ON medication condition under chronic dopaminergic treatment. All images were normalized to a standard FDG-PET template, then a semi‐quantitative analysis was performed on a commercially available fully‐automated post‐processing software (Cortex ID SUITE, GE Healthcare). Clinical assessment included the MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and the Montreal Cognitive Assessment (MoCA). Continuous variables between groups were compared through the Mann-Whitney test while nominal/ordinal variables through the chi-squared test.</div></div><div><h3>Results</h3><div>Eight RAB32-PD patients (males:3/8; age:65.38 years [±8.73]; disease duration:10.50 years [±5.88]; H&amp;Y:2.81[±1.22]; MDS-UPDRS-III:36.38 [±25.34]; MoCA:24.88[±5.86]) and 19 NM-PD patients (males:11/19; age:60.53 years [±8.00]; disease duration:8.68 years [±5.70]; H&amp;Y:2.39 [±.51]; MDS-UPDRS-III:29.95 [±11.14]; MoCA:24.21 [±6.07]) were included. No statistically significant differences in FDG-PET data and clinical variables were found between RAB32-PD and NM-PD cohorts. In the majority of RAB-32 PD patients a prevalent parietal hypometabolism was observed, similar to previous findings reported in LRRK2-related PD and NM-PD.</div></div><div><h3>Interpretation</h3><div>This study represents the first description of FDG-PET findings in RAB32-PD patients, highlighting a possible similar pattern of hypometabolism with LRRK2- and NM-PD. Additional studies with matched and comparable control cohorts are needed to confirm these preliminary results.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"134 ","pages":"Article 107343"},"PeriodicalIF":3.1,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674327","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}
引用次数: 0
Response -- letter to the editor: Unraveling the neural signatures: Distinct pallidal patterns in dystonia subtypes.
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-27 DOI: 10.1016/j.parkreldis.2025.107350
Aasef G Shaikh, H A Jinnah, Alexey Sedov
{"title":"Response -- letter to the editor: Unraveling the neural signatures: Distinct pallidal patterns in dystonia subtypes.","authors":"Aasef G Shaikh, H A Jinnah, Alexey Sedov","doi":"10.1016/j.parkreldis.2025.107350","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2025.107350","url":null,"abstract":"<p><p>We recognize the need for longitudinal measures and mechanistic understanding of the basis for phenotype to single-neuron correlations. We clarify that pallidal neuron differs across dystonia subtypes. We highlight animal studies showing how cerebellar activity can influence pallidal neuron behavior, supporting the idea of cerebellar activity transmission to the pallidum.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107350"},"PeriodicalIF":3.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586640","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}
引用次数: 0
Breath hydrogen levels in patients with Parkinson's disease: A pilot cross-sectional study
IF 3.1 3区 医学
Parkinsonism & related disorders Pub Date : 2025-02-27 DOI: 10.1016/j.parkreldis.2025.107353
Sonja Baltic , Nikola Todorovic , Sanela Popovic , Vladimir Galic , Marija Semnic , Sergej M. Ostojic
{"title":"Breath hydrogen levels in patients with Parkinson's disease: A pilot cross-sectional study","authors":"Sonja Baltic ,&nbsp;Nikola Todorovic ,&nbsp;Sanela Popovic ,&nbsp;Vladimir Galic ,&nbsp;Marija Semnic ,&nbsp;Sergej M. Ostojic","doi":"10.1016/j.parkreldis.2025.107353","DOIUrl":"10.1016/j.parkreldis.2025.107353","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"133 ","pages":"Article 107353"},"PeriodicalIF":3.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548565","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}
引用次数: 0
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