{"title":"Plasma biomarkers for diagnosis and prognosis in Down syndrome-related Alzheimer's disease","authors":"Charlotte Teunissen, Flora Duits","doi":"10.1016/s1474-4422(25)00203-0","DOIUrl":"https://doi.org/10.1016/s1474-4422(25)00203-0","url":null,"abstract":"No Abstract","PeriodicalId":22676,"journal":{"name":"The Lancet Neurology","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311855","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}
Marco Artico, Francesco M Galassi, Cecilia Carubbi, Marco Vitale, Luigi Cofone
{"title":"Antonio Pacchioni: italian physician and anatomist","authors":"Marco Artico, Francesco M Galassi, Cecilia Carubbi, Marco Vitale, Luigi Cofone","doi":"10.1016/s1474-4422(25)00200-5","DOIUrl":"https://doi.org/10.1016/s1474-4422(25)00200-5","url":null,"abstract":"No Abstract","PeriodicalId":22676,"journal":{"name":"The Lancet Neurology","volume":"145 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311839","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}
David J Oliver, Simone Veronese, Ida J Korfage, Jenny T van der Steen
{"title":"Advance care planning in dementia","authors":"David J Oliver, Simone Veronese, Ida J Korfage, Jenny T van der Steen","doi":"10.1016/s1474-4422(25)00196-6","DOIUrl":"https://doi.org/10.1016/s1474-4422(25)00196-6","url":null,"abstract":"No Abstract","PeriodicalId":22676,"journal":{"name":"The Lancet Neurology","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311854","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}
Christina D Orrú, David P Vaughan, Nirosen Vijiaratnam, Raquel Real, Alejandro Martinez-Carrasco, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Christine Girges, Ana-Luisa Gil-Martinez, Eleanor J Stafford, Lesley Wu, Stefanie Lerche, Isabel Wurster, Bradley R Groveman, Andrew G Hughson, Olaf Ansorge, Annelies Quaegebeur, Kieren S J Allinson, Thomas T Warner, Edwin Jabbari
{"title":"Diagnostic and prognostic value of α-synuclein seed amplification assay kinetic measures in Parkinson's disease: a longitudinal cohort study","authors":"Christina D Orrú, David P Vaughan, Nirosen Vijiaratnam, Raquel Real, Alejandro Martinez-Carrasco, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Christine Girges, Ana-Luisa Gil-Martinez, Eleanor J Stafford, Lesley Wu, Stefanie Lerche, Isabel Wurster, Bradley R Groveman, Andrew G Hughson, Olaf Ansorge, Annelies Quaegebeur, Kieren S J Allinson, Thomas T Warner, Edwin Jabbari","doi":"10.1016/s1474-4422(25)00157-7","DOIUrl":"https://doi.org/10.1016/s1474-4422(25)00157-7","url":null,"abstract":"<h3>Background</h3>α-synuclein seed amplification assay (SAA) positivity has been proposed as a diagnostic biomarker for Parkinson's disease. However, studies of the prognostic value of this biomarker have been limited to small, single-centre studies over short follow-up periods. We aimed to assess the diagnostic and prognostic value of quantitative CSF α-synuclein SAA kinetic measures in Parkinson's disease.<h3>Methods</h3>In this longitudinal cohort study, we collected and analysed data from participants with Parkinson's disease, progressive supranuclear palsy, and healthy controls enrolled in three cohorts: the UK parkinsonism cohort, the Parkinson's Progression Markers Initiative (PPMI) international observational study, and the Tübingen Parkinson's disease cohort. Baseline CSF α-synuclein SAA data and longitudinal clinical data were collected between Jan 1, 2005, and Nov 1, 2023. The following seeding kinetic measures were calculated from the α-synuclein SAA curve for each SAA-positive sample: time to threshold (TTT) for a positive SAA result; maximum Thioflavin T fluorescence during the reaction time (MaxThT); and area under the fluorescence curve during the reaction time (AUC). We compared seeding kinetic measures between sporadic Parkinson's disease and progressive supranuclear palsy, and between sporadic Parkinson's disease and monogenic Parkinson's disease. We used time-to-event analyses to assess the ability of α-synuclein SAA kinetic measures to predict an unfavourable outcome in Parkinson's disease, adjusting for sex, age, and disease duration at SAA testing.<h3>Findings</h3>We analysed data from 1631 participants: newly generated data from the UK parkinsonism cohort (Parkinson's disease, n=66; progressive supranuclear palsy, n=52; controls, n=9) and previously generated data from the PPMI (Parkinson's disease, n=1036; controls, n=239) and Tübingen (Parkinson's disease, n=229) cohorts. In the UK parkinsonism cohort, α-synuclein SAA was positive in 63 (96%) of 66 Parkinson's disease samples and eight (15%) of 52 progressive supranuclear palsy samples, with six (75%) of eight positive progressive supranuclear palsy samples having distinct low and slow seeding kinetics (low MaxThT and high TTT) as a marker of Lewy body co-pathology. TTT was faster in <em>GBA1</em>-associated Parkinson's disease compared with sporadic Parkinson's disease in both the PPMI (p=0·04) and Tübingen (p=0·01) cohorts. In the PPMI cohort, after excluding individuals who had an unfavourable outcome at the time of baseline SAA testing, an unfavourable outcome was observed in 593 (73%) of 810 participants with α-synuclein SAA-positive Parkinson's disease during a median follow-up period of 4·5 years (IQR 2–9). TTT at baseline predicted only cognitive decline (Montreal Cognitive Assessment score ≤21) as a component of an unfavourable outcome in Parkinson's disease in both the PPMI (n=824, hazard ratio [HR] 2·36 [95% CI 1·60–3·46], p=0·001) and Tübingen (n=135, 2·17 [","PeriodicalId":22676,"journal":{"name":"The Lancet Neurology","volume":"29 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311909","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}
Kathrin Reetz, Stella A Lischewski, Imis Dogan, Claire Didszun, Miguel Pishnamaz, Kerstin Konrad, Katharina Marx-Schütt, Jennifer Farmer, David R Lynch, Louise A Corben, Massimo Pandolfo, Jörg B Schulz
{"title":"Friedreich's ataxia—a rare multisystem disease","authors":"Kathrin Reetz, Stella A Lischewski, Imis Dogan, Claire Didszun, Miguel Pishnamaz, Kerstin Konrad, Katharina Marx-Schütt, Jennifer Farmer, David R Lynch, Louise A Corben, Massimo Pandolfo, Jörg B Schulz","doi":"10.1016/s1474-4422(25)00175-9","DOIUrl":"https://doi.org/10.1016/s1474-4422(25)00175-9","url":null,"abstract":"Friedreich's ataxia is a rare autosomal recessive neurodegenerative disease. Most patients have a homozygous GAA repeat expansion in the <em>FXN</em> gene, resulting in a deficiency of the mitochondrial protein frataxin. Disease onset occurs typically in adolescence but can vary widely, ranging from early childhood to late adulthood. Friedreich's ataxia is increasingly recognised as a multisystem disorder, affecting not only the nervous system, but also the heart and musculoskeletal system, and metabolism. Common extraneural manifestations include cardiomyopathy, which is the most common cause of mortality, and also scoliosis and diabetes. Despite research advances, the phenotypical heterogeneity of patients with Friedrich's ataxia remains inadequately explained by current knowledge of the underlying genetics. The approval of omaveloxolone by the US Food and Drug Administration and the European Medicines Agency has been a pharmacological milestone; however, further research addressing complex interorgan interactions is crucial for a better understanding of the multisystem nature of Friedreich's ataxia and the development of targeted treatment approaches.","PeriodicalId":22676,"journal":{"name":"The Lancet Neurology","volume":"44 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311908","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}
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