Clinical Parkinsonism Related Disorders最新文献

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Identification of inverted U-shaped curve association between serum potassium and prodromal Parkinson’s disease 血清钾与前驱帕金森病关系的倒u型曲线鉴定
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100323
Wen Zhou, Qingqing Xia, Duan Liu, Jun-ying Li, Liang Gong
{"title":"Identification of inverted U-shaped curve association between serum potassium and prodromal Parkinson’s disease","authors":"Wen Zhou,&nbsp;Qingqing Xia,&nbsp;Duan Liu,&nbsp;Jun-ying Li,&nbsp;Liang Gong","doi":"10.1016/j.prdoa.2025.100323","DOIUrl":"10.1016/j.prdoa.2025.100323","url":null,"abstract":"<div><h3>Background</h3><div>The association between serum potassium and prodromal Parkinson’s disease (PPD) remains unclear currently.</div></div><div><h3>Objective</h3><div>The ultimate goal is to gain a deeper understanding of the implications of this association between serum potassium and PPD.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cross-sectional study involving 1035 participants in PPMI cohort. Age, sex, education years, race, body mass index (BMI), calcium, alanine aminotransferase, aspartate aminotransferase, lymphocytes, neutrophils, serum uric acid, serum sodium, serum potassium, creatinine, serum glucose were obtained from all participants. Logistic regression, and smooth curve fitting were utilized to substantiate the research objectives.</div></div><div><h3>Results</h3><div>The overall PPD was 83.4 % (863/1035). Multivariate odds ratio regression adjusted for risk factors demonstrates a 1-unit increment in the serum potassium raises the risk of PPD by 1.82 times, respectively. Smooth splines analysis suggested an inverted U-shaped association between serum potassium and PPD (P nonlinearity &lt; 0.05), with the zenith of risk at 4.479 mmol/L. Further subgroup analysis and sensitivity analyses supported the primary findings and indicated the conclusions are robust.</div></div><div><h3>Conclusions</h3><div>This study highlights the association between serum potassium levels and the risk of incident PPD, independent of confounders. The association between serum potassium and PPD is inverted U-shaped, the threshold value is 4.479 mmol/l.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100323"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143821263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of social isolation and changes in Parkinson’s disease symptoms during the COVID-19 pandemic: A longitudinal study COVID-19大流行期间社会隔离和帕金森病症状变化的评估:一项纵向研究
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2024.100293
Anish Mehta , Samuel Y.E. Ng , Shermyn X.M. Neo , Nicole S.Y. Chia , Ehsan S. Saffari , Thyagarajan Shivashanmugam , Xinyi Choi , Dede L. Heng , Z.Y. Xu , K.Y. Tay , W.L. Au , E.K. Tan , Louis C.S. Tan
{"title":"Assessment of social isolation and changes in Parkinson’s disease symptoms during the COVID-19 pandemic: A longitudinal study","authors":"Anish Mehta ,&nbsp;Samuel Y.E. Ng ,&nbsp;Shermyn X.M. Neo ,&nbsp;Nicole S.Y. Chia ,&nbsp;Ehsan S. Saffari ,&nbsp;Thyagarajan Shivashanmugam ,&nbsp;Xinyi Choi ,&nbsp;Dede L. Heng ,&nbsp;Z.Y. Xu ,&nbsp;K.Y. Tay ,&nbsp;W.L. Au ,&nbsp;E.K. Tan ,&nbsp;Louis C.S. Tan","doi":"10.1016/j.prdoa.2024.100293","DOIUrl":"10.1016/j.prdoa.2024.100293","url":null,"abstract":"<div><h3>Background</h3><div>COVID-19-related social restrictions provided an opportunity to evaluate the impact of social isolation on Parkinson’s disease.</div></div><div><h3>Objective</h3><div>This study aimed to explore changes in social isolation and their associations with PD symptoms using the Lubben Social Network Scale-Revised (LSNS-R).</div></div><div><h3>Methods</h3><div>Data from 80 participants of the Early Parkinson’s Disease Longitudinal Singapore cohort were collected from April 2019 to April 2023, covering the periods before and after the imposition of COVID-19 restrictions. Individuals with LSNS-R scores ≤ 24 were considered socially isolated. Data were stratified into strata 1 (improved LSNS-R scores) and strata 2 (worsened/unchanged scores). Linear regression was used to identify predictors of LSNS-R change, and MANCOVA was used to examine associations between LSNS-R change and motor/ non-motor symptoms.</div></div><div><h3>Results</h3><div>Mean LSNS-R scores decreased (p = 0.014), and proportions of social isolation increased (p &lt; 0. 001) during COVID-19 restrictions. However, 35 % showed improved LSNS-R scores, while 65 % had worsened/unchanged scores. The regression model was significant in strata 1 (R2 = 0.806, p = 0.001), with age, marital status, and social isolation status being significantly associated with change in LSNS-R scores. LSNS-R. Results of MANCOVA indicated that LSNS-R improvements in LSNS-R were significantly associated with outcomes (Roy’s Largest Root statistic = 126.638, p &lt; 0.001), particularly for changes in PDQ8, HADS-Anxiety, and HADS-Depression scores. The regression model was not significant in strata 2 (R2 = 0. 279, p = 0.206), wherein motor and non-motor symptoms worsened.</div></div><div><h3>Conclusion</h3><div>While worsening LSNS-R scores were associated with poorer outcomes, improvements in social networks were associated with improved non-motor symptoms and quality of life. These findings underscore the complexity of social isolation in PD and the need for targeted interventions.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100293"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11696853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions 新的NOTCH3突变c.1564t>a (p.Cys522Ser)表现为早发性帕金森病和白质病变。
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100297
Nicola Rifino , Silvia Baratta , Esteban Zacarias , Isabella Canavero , Benedetta Storti , Mario Stanziano , Emanuela Maderna , Gianluca Marucci , Franco Taroni , Anna Bersano
{"title":"Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions","authors":"Nicola Rifino ,&nbsp;Silvia Baratta ,&nbsp;Esteban Zacarias ,&nbsp;Isabella Canavero ,&nbsp;Benedetta Storti ,&nbsp;Mario Stanziano ,&nbsp;Emanuela Maderna ,&nbsp;Gianluca Marucci ,&nbsp;Franco Taroni ,&nbsp;Anna Bersano","doi":"10.1016/j.prdoa.2025.100297","DOIUrl":"10.1016/j.prdoa.2025.100297","url":null,"abstract":"<div><div>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T &gt; A (p.Cys522Ser) mutation associated with early-onset parkinsonism and significant white matter lesions. We describe a patient who presented with early-onset parkinsonism, characterized by bradykinesia and rigidity, alongside extensive white matter lesions observed through neuroimaging. Genetic testing revealed a novel c.1564 T &gt; A (p.Cys522Ser) mutation in the NOTCH3 gene, contributing to the clinical diagnosis of CADASIL. This case underscores the phenotypic variability of CADASIL and the potential for atypical presentations, including parkinsonism. Early identification of genetic mutations can facilitate appropriate management and counseling for affected individuals and their families. Further research is warranted to explore the mechanisms underlying the association between NOTCH3 mutations and parkinsonism. Our findings contribute to the understanding of CADASIL, suggesting that clinicians should consider CADASIL in differential diagnoses of early-onset parkinsonism, especially in patients with concurrent white matter lesions.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100297"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11773460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143060744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Efficacy of virtual reality-based cognitive behavioral group therapy in enhancing emotional well-being and quality of life in Parkinson’s disease: A randomized controlled trial 基于虚拟现实的认知行为团体治疗在增强帕金森病患者情绪健康和生活质量方面的疗效:一项随机对照试验
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100316
Gooya Tayyebi , Farnaz Asadiof , Bahar Hashempour , Mohsen Lotfi , Mostafa Taheri , Mahdi Naeim
{"title":"Efficacy of virtual reality-based cognitive behavioral group therapy in enhancing emotional well-being and quality of life in Parkinson’s disease: A randomized controlled trial","authors":"Gooya Tayyebi ,&nbsp;Farnaz Asadiof ,&nbsp;Bahar Hashempour ,&nbsp;Mohsen Lotfi ,&nbsp;Mostafa Taheri ,&nbsp;Mahdi Naeim","doi":"10.1016/j.prdoa.2025.100316","DOIUrl":"10.1016/j.prdoa.2025.100316","url":null,"abstract":"<div><h3>Objective</h3><div>This study evaluates the effectiveness of virtual reality-based cognitive behavioral group therapy (VR-CBGT) in improving emotional well-being and quality of life in individuals with Parkinson’s disease.</div></div><div><h3>Methods</h3><div>A randomized controlled trial was conducted in 2023 at Roozbeh Hospital, Tehran, with 90 Parkinson’s patients. Participants were randomly assigned to an intervention group receiving 12 VR-CBGT sessions over three months with a control group receiving standard medical care without psychological intervention. Emotional well-being was assessed using the Hospital Anxiety and Depression Scale (HADS), and quality of life was measured with the Parkinson’s Disease Questionnaire-39 (PDQ-39) before and after the intervention. Data were analyzed using Multivariate Analysis of Covariance (MANCOVA) in SPSS-25.</div></div><div><h3>Results</h3><div>The intervention group demonstrated a significant improvement in emotional well-being (HADS-total score reduction of 7.2 points, P &lt; 0.001) and quality of life (PDQ-39 total score improvement of 12.5 %, P = 0.002) compared to the control group. VR-CBGT explained 18 % of the variance in emotional well-being and 26 % in quality of life.</div></div><div><h3>Conclusion</h3><div>These findings highlight VR-CBGT as an effective complementary intervention for enhancing psychological health and overall quality of life in Parkinson’s patients. The immersive nature of VR fosters engagement and facilitates cognitive and emotional processing, supporting its integration into multidisciplinary treatment approaches.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100316"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143609345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations among blood biomarkers, clinical subtypes, and prognosis in Parkinson’s disease 帕金森病血液生物标志物、临床亚型和预后之间的关系
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100313
Hideki Oizumi , Takafumi Hasegawa , Ichiro Kawahata , Tomoki Sekimori , Tomoko Totsune , Yoko Sugimura , Toru Baba , Kohji Fukunaga , Atsushi Takeda
{"title":"Associations among blood biomarkers, clinical subtypes, and prognosis in Parkinson’s disease","authors":"Hideki Oizumi ,&nbsp;Takafumi Hasegawa ,&nbsp;Ichiro Kawahata ,&nbsp;Tomoki Sekimori ,&nbsp;Tomoko Totsune ,&nbsp;Yoko Sugimura ,&nbsp;Toru Baba ,&nbsp;Kohji Fukunaga ,&nbsp;Atsushi Takeda","doi":"10.1016/j.prdoa.2025.100313","DOIUrl":"10.1016/j.prdoa.2025.100313","url":null,"abstract":"<div><h3>Background</h3><div>Early identification of the poor prognosis subtype by surrogate markers would be advantageous for selecting treatments for Parkinson’s disease (PD). The aim of the present study was to test whether plasma neurofilament light chain (NF-L), total tau (t-tau), ubiquitin carboxyl-terminal hydrolase L1 (UCH-L1), fatty acid-binding protein 3 (FABP3), and phosphorylated tau (p-tau) can be used as prognostic biomarkers in PD.</div></div><div><h3>Methods</h3><div>In the present study, both retrospective and prospective studies were performed. Plasma samples at baseline from 81 PD patients were included in the prospective study. Plasma samples at baseline from 60 patients who underwent cognitive assessment were subjected to the hierarchical cluster analysis for a retrospective study.</div></div><div><h3>Results</h3><div>On the basis of the results of the cluster analysis, patients were classified into three groups: groups (G)1, G2 and G3. Individuals in the G1 cluster, who had an older age at onset and were prone to early progression with dementia, had significantly greater plasma NF-L levels than those in the G3 cluster, who did not present with dementia at an early stage. A Cox proportional hazards regression model adjusted for age and sex revealed that high NF-L and UCH-L1 levels at baseline predicted the four future milestones (i.e., nursing care, dysphagia, wheelchair use, and repeated falls), and high plasma t-tau at baseline predicted future dysphagia.</div></div><div><h3>Conclusions</h3><div>Although further studies with a larger number of patients will be required, plasma NF-L may be a useful biomarker for identifying the rapidly progressive subtype of PD, and plasma NF-L and UCH-L1 may serve as biomarkers of overall PD prognosis, whereas plasma t-tau could be a biomarker for future dysphagia in PD.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100313"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143621026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 comparison of gait disorders among different motor subtypes in Parkinson’s disease patients during the early and middle stages 帕金森病患者不同运动亚型早中期步态障碍的比较
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100309
Jianing Mei , Yu Wang , Dongyu Zhu , Yang Li , Kan Gu , Zijun Wei , Xueyi Han , Qianqian Li , Shuyun Jiang , Yunyun Zhang
{"title":"The comparison of gait disorders among different motor subtypes in Parkinson’s disease patients during the early and middle stages","authors":"Jianing Mei ,&nbsp;Yu Wang ,&nbsp;Dongyu Zhu ,&nbsp;Yang Li ,&nbsp;Kan Gu ,&nbsp;Zijun Wei ,&nbsp;Xueyi Han ,&nbsp;Qianqian Li ,&nbsp;Shuyun Jiang ,&nbsp;Yunyun Zhang","doi":"10.1016/j.prdoa.2025.100309","DOIUrl":"10.1016/j.prdoa.2025.100309","url":null,"abstract":"<div><h3>Background and Purpose</h3><div>There is a scarcity of quantitative research on gait differences among patients with different motor subtypes of Parkinson’s disease (PD), especially during the early and middle stages of the condition. The purpose of this study is to describe the gait characteristics of PD with different motor subtypes in the early and middle stages and to identify the most sensitive indicators of gait impairment.</div></div><div><h3>Methods</h3><div>General information, including age, gender, disease duration, levodopa equivalent daily dose (LEDD), and falls, was collected. Motor and non-motor symptoms of PD were assessed using multiple scales. Patients’ walking function and lower limb joint movement ability were analyzed using a 3D gait analysis system.</div></div><div><h3>Results</h3><div>The study included 64 patients with early and middle-stage PD, of whom 33 were classified as the TD subtype, 24 were classified as the PIGD subtype, and 7 were classified as the Mixed subtype. In addition, 5 healthy subjects were included in the evaluation as healthy controls. The PIGD patients have significantly higher LEDD (431.08 ± 250.90 mg vs. 302.08 ± 164.64 mg, p = 0.034) and a higher number of falls (0.29 vs. 0.00, p = 0.018) than the TD patients. The overall gait disturbances and motor and non-motor symptoms did not exhibit significant differences between TD and PIGD patients. However, the decrease in GDI (β = −0.730 vs. β = −0.235, p = 0.043) and hip flexion and extension range (β = −0.533 vs. β = −0.470, p &lt; 0.001) was more pronounced in PIGD patients compared to TD patients as the MDS-UPDRS Ⅲ score increased.</div></div><div><h3>Conclusion</h3><div>There is no significant difference in gait severity between patients with TD and PIGD subtypes during the early and middle stages of PD. However, PIGD patients exhibit a more rapid progression of gait impairment than TD, particularly affecting hip mobility.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100309"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143579054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bi-pallidal deep brain stimulation as an effective therapy in atypical two-stage evolution adult-onset KMT2B-related dystonia 双侧脑深部刺激作为非典型两阶段发展成人发病kmt2b相关肌张力障碍的有效治疗
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100314
Georges-Junior Kahwagi , Cécile Hubsch , Lydie Burglen , Jean-Philippe Brandel , Sophie Sangla , Clément Desjardins
{"title":"Bi-pallidal deep brain stimulation as an effective therapy in atypical two-stage evolution adult-onset KMT2B-related dystonia","authors":"Georges-Junior Kahwagi ,&nbsp;Cécile Hubsch ,&nbsp;Lydie Burglen ,&nbsp;Jean-Philippe Brandel ,&nbsp;Sophie Sangla ,&nbsp;Clément Desjardins","doi":"10.1016/j.prdoa.2025.100314","DOIUrl":"10.1016/j.prdoa.2025.100314","url":null,"abstract":"<div><div>We report an adult-onset KMT2B-related dystonia with a two-stage evolution: focal cervical onset followed by rapid generalization. Whole genome sequencing identified a likely pathogenic KMT2B variant. Bi-pallidal deep brain stimulation led to an 83% motor improvement, highlighting its therapeutic potential in late-onset atypical two-stage evolution<!--> <!-->KMT2B-dystonia.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100314"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autophagy related genes polymorphisms in Parkinson’s Disease; A systematic review of literature 帕金森病自噬相关基因多态性研究对文献的系统回顾
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100312
Parastoo Yousefi , Shahrzad Ghadirian , Maryam Mobedi , Mehrzad Jafarzadeh , Adib Alirezaei , Ali Gholami , Alireza Tabibzadeh
{"title":"Autophagy related genes polymorphisms in Parkinson’s Disease; A systematic review of literature","authors":"Parastoo Yousefi ,&nbsp;Shahrzad Ghadirian ,&nbsp;Maryam Mobedi ,&nbsp;Mehrzad Jafarzadeh ,&nbsp;Adib Alirezaei ,&nbsp;Ali Gholami ,&nbsp;Alireza Tabibzadeh","doi":"10.1016/j.prdoa.2025.100312","DOIUrl":"10.1016/j.prdoa.2025.100312","url":null,"abstract":"<div><h3>Background</h3><div>Neurodegenerative diseases are mainly a consequence of degenerated proteins in neurons. Parkinson’s disease (PD) is one of the most common neurodegenerative disorders and is characterized by Lewy body deposition. Autophagy is known as one of the cell maintenance mechanisms. Autophagy targets are damaged or degenerated macromolecules and organelles for lysosomal degradation. The role of disrupted autophagy in PD was established earlier. In this regard, the current study aimed to evaluate the frequency and status of the autophagy gene polymorphisms in PD by a systematic review approach.</div></div><div><h3>Materials and methods</h3><div>In the current study, electronic databases including Scopus, PubMed, and Science Direct were used for the search. The search was performed by using Parkinson’s disease, autophagy, autophagy-related gene, ATG, Single-nucleotide polymorphisms, variant, Sequence variants, and with a date limitation of 2010 to 2023. All original research papers in the English language that evaluate the ATG polymorphisms in PD were included in the study.</div></div><div><h3>Results</h3><div>The conducted search leads to 2626 primary studies screened based on the inclusion criteria. After the screening stage, 8 studies were included. ATG7 rs1375206 and ATG5 rs510432, rs573775 and rs17587319 were associated with PD. However, some other polymorphisms in ATGs that were not associated with PD were listed.</div></div><div><h3>Conclusion</h3><div>In conclusion, regardless of the critical role of autophagy in PD pathogenesis, it seems that ATG16 and ATG7 polymorphisms are not associated with PD; however, ATG7 rs1375206 needs more evaluation for a clearer conclusion in future studies. ATG5 and ATG12 polymorphisms seem to be more important in PD. More comprehensive studies about all ATG5, 7, 12, and 16 seem to be urgently required for a conclusive judgment about their role in PD or even other neurodegenerative disorders.</div></div>","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100312"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143509516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dopa-responsive parkinsonism without cerebellar ataxia in spinocerebellar ataxia 6 无小脑性共济失调的多巴反应性帕金森病6
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2025.100322
Shun Yoshida , Toshiyuki Takahashi , Naoki Suzuki , Muneshige Tobita
{"title":"Dopa-responsive parkinsonism without cerebellar ataxia in spinocerebellar ataxia 6","authors":"Shun Yoshida ,&nbsp;Toshiyuki Takahashi ,&nbsp;Naoki Suzuki ,&nbsp;Muneshige Tobita","doi":"10.1016/j.prdoa.2025.100322","DOIUrl":"10.1016/j.prdoa.2025.100322","url":null,"abstract":"","PeriodicalId":33691,"journal":{"name":"Clinical Parkinsonism Related Disorders","volume":"12 ","pages":"Article 100322"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143768346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hospital utilization and telemedicine preferences in patients with late-stage Parkinson’s disease and caregivers 晚期帕金森病患者和护理人员的医院利用和远程医疗偏好
IF 1.9
Clinical Parkinsonism Related Disorders Pub Date : 2025-01-01 DOI: 10.1016/j.prdoa.2024.100296
Seo Hyun Hong , Seoyeon Kim , Seungmin Lee , Bora Jin , Jung Hwan Shin , Kyung Ah Woo , Han-Joon Kim
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