{"title":"A diagnostic blind spot in late-onset ataxia: missed FGF14 repeat expansion after negative genome sequencing and the risk of forced diagnostic unification.","authors":"Jacob Mistry, Mihaela Boca","doi":"10.1016/j.parkreldis.2026.108379","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2026.108379","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"108379"},"PeriodicalIF":4.3,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148272503","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":"Reply to: Transcriptomic analysis of plasma small extracellular vesicles identifies potential diagnostic biomarkers for Parkinson's disease dementia","authors":"Miyuki Imazawa","doi":"10.1016/j.parkreldis.2026.108225","DOIUrl":"10.1016/j.parkreldis.2026.108225","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 108225"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119658","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":"Understanding microlesion and cognitive interactions in STN-DBS: A clinical perspective","authors":"Halil Onder, Seyma Tazegul, Ismet Melek","doi":"10.1016/j.parkreldis.2026.108257","DOIUrl":"10.1016/j.parkreldis.2026.108257","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 108257"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147444466","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":"Expert commentary on “A novel homozygous SQSTM1 frameshift variant in a Filipino adolescent with childhood-onset ataxia and gaze palsy”","authors":"Shekeeb S. Mohammad , Hugo Morales-Briceno","doi":"10.1016/j.parkreldis.2026.108328","DOIUrl":"10.1016/j.parkreldis.2026.108328","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 108328"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147778289","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":"Expert comment for “Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) gene”","authors":"Patricia de Carvalho Aguiar","doi":"10.1016/j.parkreldis.2026.108338","DOIUrl":"10.1016/j.parkreldis.2026.108338","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 108338"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819498","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}
Duncan Street , Lara Teare , Tanya Georgieva , Jenna Ridley , Suzanne Broadgate , Penny Clouston , Mary O'Driscoll
{"title":"Myoclonus-dystonia due to novel mutation in the guanine nucleotide-binding protein (GNB1) gene","authors":"Duncan Street , Lara Teare , Tanya Georgieva , Jenna Ridley , Suzanne Broadgate , Penny Clouston , Mary O'Driscoll","doi":"10.1016/j.parkreldis.2025.107822","DOIUrl":"10.1016/j.parkreldis.2025.107822","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 107822"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049743","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}
Berit Abraham , Sophia Carl , Lan Ye , Florian Wegner , Matthias Höllerhage , Martin Schulze Westhoff , Felix Konen , Ishana V. Schneidereit , Thomas Skripuletz , Martin Klietz
{"title":"The influence of beta-amyloid and tau proteins on cognitive changes in Parkinson's disease","authors":"Berit Abraham , Sophia Carl , Lan Ye , Florian Wegner , Matthias Höllerhage , Martin Schulze Westhoff , Felix Konen , Ishana V. Schneidereit , Thomas Skripuletz , Martin Klietz","doi":"10.1016/j.parkreldis.2026.108332","DOIUrl":"10.1016/j.parkreldis.2026.108332","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's dementia (AD), characterized by both motor and non-motor symptoms. Cognitive impairment is frequent and can progress to dementia. Early detection of cognitive dysfunction and timely intervention are crucial for maintaining quality of life. Identifying prognostic biomarkers for cognitive impairment therefore remains a key subject in PD research.</div></div><div><h3>Objective</h3><div>This literature review examines the prognostic value of AD-associated cerebrospinal fluid (CSF) biomarkers (beta-amyloid 1-42, beta-amyloid 1-40, total tau, and phosphorylated tau) in relation to cognitive impairment in patients with PD.</div></div><div><h3>Methods</h3><div>A systematic search was conducted in PubMed. Inclusion criteria required a formal diagnosis of PD, CSF analysis as well as cognitive testing. Studies without longitudinal data were excluded.</div></div><div><h3>Results</h3><div>18 studies met the inclusion criteria, 11 of which utilized data from the Parkinson's Progression Markers Initiative (PPMI). Several studies demonstrated that lower CSF beta-amyloid 1-42 (Aβ42) levels and lower Aβ42:40 ratios were associated with faster cognitive decline. Findings for total tau and phosphorylated tau were inconsistent.</div></div><div><h3>Conclusion</h3><div>Aβ and tau proteins show potential as biomarkers for cognitive decline in PD, but current evidence is insufficient to support their clinical use. Inconsistencies across studies, methodological variability and short follow-up periods limit their predictive value. Future research should include larger cohorts, standardized cognitive testing and extended follow-up periods to clarify their role.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 108332"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819439","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}
Carolin Semmler , Veronika Wunderle , Taylan D. Kuzu , Oezguer A. Onur , Christian Grefkes , Gereon R. Fink , Michael T. Barbe , Peter H. Weiss
{"title":"Differential gait disturbances in patients with Parkinson's disease and normal pressure hydrocephalus","authors":"Carolin Semmler , Veronika Wunderle , Taylan D. Kuzu , Oezguer A. Onur , Christian Grefkes , Gereon R. Fink , Michael T. Barbe , Peter H. Weiss","doi":"10.1016/j.parkreldis.2025.108081","DOIUrl":"10.1016/j.parkreldis.2025.108081","url":null,"abstract":"<div><h3>Introduction</h3><div>Gait disturbances are a key symptom in normal pressure hydrocephalus (NPH) and Parkinson's disease (PD). We employed instrument-supported gait analysis to characterize commonalities and differences in gait patterns among PD and NPH patients, as well as gait changes following disease-specific interventions (i.e., spinal tap and dopaminergic medication).</div></div><div><h3>Methods</h3><div>Gait and balance analyses were conducted i) before and after NPH patients (n = 19) received a spinal tap, and ii) before and after PD patients (n = 19) received soluble dopaminergic medication. Change scores were calculated relative to each patient's baseline performance. Group differences were analyzed using independent sample t-tests or Mann-Whitney U tests and within-group changes using paired sample t-tests or Wilcoxon signed-rank tests.</div></div><div><h3>Results</h3><div>Static postural control (i.e., balance) did not differ between patient groups, but dynamic postural control did, with PD patients showing significantly reduced mediolateral sway and gait width compared to NPH patients. These parameters did not change after disease-specific interventions. For gait dynamics, PD patients demonstrated significantly higher values in pace and force parameters, which improved significantly in both groups following intervention. Finally, gait regularity showed lower variability and better rhythm-related parameters in PD patients compared to NPH patients, along with differential changes after interventions.</div></div><div><h3>Conclusion</h3><div>Except for static postural control (i.e., balance), instrument-supported gait analysis revealed several characteristic gait differences between PD and NPH patients. Variability and rhythm, reflecting gait regularity, were best suited to differentiate gait disturbances in patients with PD and NPH.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 108081"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145346353","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":"Unraveling the heterogeneity of infection-related movement disorders: A call for a mechanism-based classification","authors":"Yusa Pan , Tiantian Zhang , Chao Zhang","doi":"10.1016/j.parkreldis.2026.108180","DOIUrl":"10.1016/j.parkreldis.2026.108180","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"147 ","pages":"Article 108180"},"PeriodicalIF":3.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145945556","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}