Amyloid-Journal of Protein Folding Disorders最新文献

Expanding the clinical spectrum of lysozyme-derived amyloidosis. 扩大溶菌酶衍生淀粉样变性的临床范围。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-07-24 DOI: 10.1080/13506129.2025.2533930

Marie Robert, Yasmine Serrar, Thibaud Mathis, Thomas Barba, Olivier Thaunat, Arnaud Hot, Laurent Kodjikian

引用次数: 0

A case of acute myelopathy in ATTR-Val30Met amyloidosis with leptomeningeal involvement: pathophysiological insights and upcoming therapeutic challenges. atr - val30met淀粉样变性伴轻脑膜累及的急性脊髓病1例：病理生理学见解和即将到来的治疗挑战。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-07-20 DOI: 10.1080/13506129.2025.2533921

Obay Alalousi, Thierry Gendre, Blanche Bapst, Violaine Planté-Bordeneuve

引用次数: 0

Regarding the challenges of amyloidosis diagnosis and typing in Ukraine. 关于乌克兰淀粉样变诊断和分型的挑战。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-07-11 DOI: 10.1080/13506129.2025.2526542

Olesia O Kalmukova, Liudmyla M Surzhko, Ruth C Campbell, Daria V Ilatovskaya, Oleg Palygin, Valentyn N Nepomnyashchy

引用次数: 0

Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study. 遗传性转甲状腺蛋白淀粉样变在西班牙的遗传景观：一项多中心回顾性研究。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-07-07 DOI: 10.1080/13506129.2025.2527830

Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana

{"title":"Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.","authors":"Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, Mónica Roselló, Silvestre Oltra, Laia Pedrola, Sandra Monfort, Alba Gabaldón-Albero, Francisco Martínez, Carmen Orellana","doi":"10.1080/13506129.2025.2527830","DOIUrl":"https://doi.org/10.1080/13506129.2025.2527830","url":null,"abstract":"Background: Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive disorder caused by TTR gene variants, leading to amyloid fibril deposition and clinical manifestations like cardiomyopathy and polyneuropathy. National data for Spain are scarce, despite known high-prevalence areas such as Majorca.Methods: This multicentric, retrospective study analysed 4,526 individuals from 48/52 Spanish regions between 2015 and 2024, including 3,960 index cases and 566 at-risk relatives. Genetic testing was performed to identify pathogenic TTR variants.Results: Among 393 carriers of pathogenic variants, the most prevalent were p.Val50Met (64.1%) and p.Val142Ile (29.5%). Regional prevalence varied, with new high-prevalence areas identified, including Cádiz, Castellón, Ciudad Real, Huelva, Valencia and Zamora. A novel variant of unknown clinical significance, p.Ser137Thr, was found in two unrelated cases. Genotype-phenotype correlations showed p.Val50Met is linked to neurological phenotypes, while p.Val142Ile is associated with cardiac manifestations. A male predominance was observed in index cases, while the sex ratio in carrier relatives was similar to the general population.Conclusions: This is the largest nationwide study of ATTRv in Spain, providing key insights into its genetic landscape. The findings suggest migratory factors may influence variant distribution, emphasising the importance of genetic screening for early diagnosis and management.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-11"},"PeriodicalIF":5.2,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31. 自主神经功能障碍对ATTR心肌病患者心血管预后的影响：来自COMPASS-31的见解

IF 7.4 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-28 DOI: 10.1080/13506129.2025.2524619

Ariel Weinsaft, Sergio Teruya, Alfonsina Mirabal Santos, Stephen Helmke, Karan Wats, Juliana Levy, Dimitrios Bampatsias, Mathew S Maurer

{"title":"Impact of autonomic dysfunction on cardiovascular outcomes among patients with ATTR cardiomyopathy: insights from the COMPASS-31.","authors":"Ariel Weinsaft, Sergio Teruya, Alfonsina Mirabal Santos, Stephen Helmke, Karan Wats, Juliana Levy, Dimitrios Bampatsias, Mathew S Maurer","doi":"10.1080/13506129.2025.2524619","DOIUrl":"10.1080/13506129.2025.2524619","url":null,"abstract":"Background: ATTR is a systemic disease, causing significant morbidity and mortality, manifesting with symptoms affecting both the heart and nervous system. This study employed the Composite Autonomic Symptom Scale 31 (COMPASS-31) to assess autonomic symptoms in relation to ATTR-CM subtypes and the impact of dysfunction on prognosis.Methods: This study included contemporary ATTR-CM patients enrolled in an institutional registry from 7/21-6/24. Demographic information, patient-reported outcomes (COMPASS-31 and Kansas City Cardiomyopathy Questionnaire (KCCQ)), 6-min walk test, and clinical data (hospitalisations, mortality) were collected and compared between ATTR-CM sub-types (ATTRwt, ATTRv-Val122Ile, ATTRv-non Val122Ile).Results: 240 ATTR-CM patients (81% ATTRwt, 11% Val-122Ile, 8% non-Val122Ile) were studied. Following adjustment for age, significant COMPASS-31 score differences were observed between ATTRwt and ATTRv-nonV122I variant patients. \"High\" COMPASS-31 scores (≥35.42) were associated with later Columbia stage, lower exercise tolerance, and poorer quality of life (QOL) (all p < 0.05). Time-to-event analysis demonstrated higher probability of cardiovascular hospitalisations (CVH) for patients with \"High\" COMPASS-31 scores (p < 0.01). These patients also had increased CVH risk (HR = 4.26 [95% CI: 1.85-9.83], p = 0.001) independent of age, sex, ATTR type, Columbia Stage and diabetes.Conclusions: Among ATTR-CM patients, autonomic dysfunction assessed via COMPASS-31 questionnaire was associated with more advanced disease stage and QOL impairment, and independently predicted CVH risk.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-10"},"PeriodicalIF":7.4,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Hepatic involvement in light chain amyloidosis: analysis of 130 patients and predictors of hepatic response and survival. 轻链淀粉样变累及肝脏：130例患者的分析及肝脏反应和生存的预测因素。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-12 DOI: 10.1080/13506129.2025.2516790

Matthew J Rees, Nadia Toumeh, Angela Dispenzieri, Morie Gertz, Binoy Yohannan, Suheil Albert Atallah-Yunes, Prashant Kapoor, Taxiarchis Kourelis, Nelson Leung, Suzanne Hayman, Francis Buadi, David Dingli, Joselle Cook, Rahma Warsame, Moritz Binder, Wilson Gonsalves, S Vincent Rajkumar, Shaji Kumar, Eli Muchtar

{"title":"Hepatic involvement in light chain amyloidosis: analysis of 130 patients and predictors of hepatic response and survival.","authors":"Matthew J Rees, Nadia Toumeh, Angela Dispenzieri, Morie Gertz, Binoy Yohannan, Suheil Albert Atallah-Yunes, Prashant Kapoor, Taxiarchis Kourelis, Nelson Leung, Suzanne Hayman, Francis Buadi, David Dingli, Joselle Cook, Rahma Warsame, Moritz Binder, Wilson Gonsalves, S Vincent Rajkumar, Shaji Kumar, Eli Muchtar","doi":"10.1080/13506129.2025.2516790","DOIUrl":"https://doi.org/10.1080/13506129.2025.2516790","url":null,"abstract":"Organ response is key to improving outcomes in light chain (AL) amyloidosis. We investigated factors associated hepatic response (HepR) in a large cohort of patients with hepatic AL amyloidosis.Methods: Retrospective study of newly-diagnosed AL amyloidosis patients (n = 130) with liver involvement evaluated at the Mayo Clinic between 2000-2021. Patients were eligible if they had documented liver involvement and baseline alkaline phosphatase (ALP)≥1.5x upper limit of normal (ULN). HepR was defined as >50% reduction in ALP from baseline or ALP normalization. HepRs were assessed at 6, 12, 24 month after treatment initiation and the best HepR at any time point.Results: The median baseline ALP was 2.88-fold the ULN (ALP:ULN, IQR: 2.15-4.41), and the median bilirubin was 0.7 mg/dL. HepR rates increased with time from 28% at 6 months, 36% at 12 months and 48% at 24 months. The median time to HepR was 21.5 months (95%CI = 15.4-29.5). Baseline ALP ≥ 4xULN consistently predicted HepR across all time points. Hematological response (HemR) also independently predicted HepR at 12, 24 months and best response. At best hepatic response, kappa isotype, and front-line ASCT were further independent predictors of HepR.Conclusions: The degree of baseline ALP elevation and HemR are reliable predictors of HepR.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"1-9"},"PeriodicalIF":5.2,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Enhanced analytic methodology enables postmortem diagnosis of hereditary AApoAI amyloidosis. 改进的分析方法使死后诊断遗传性AApoAI淀粉样变。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-12 DOI: 10.1080/13506129.2025.2515938

Jeanne L Theis, Linda Hasadsri, Surendra Dasari, Jason D Theis, Julie A Vrana, Mckinzie Johnson, Meghan Driscoll, Ellen D McPhail, Karen L Rech

引用次数: 0

Right ventricular-pulmonary arterial coupling and outcomes in cardiac amyloidosis: systematic review and meta-analysis. 右心室-肺动脉耦合和心脏淀粉样变性的结局：系统回顾和荟萃分析。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-04 DOI: 10.1080/13506129.2025.2512751

Panagiotis Theofilis, Evangelos Oikonomou, Paschalis Karakasis, Athanasios Sakalidis, Panayotis K Vlachakis, Konstantinos Pamporis, Emmanouil Mantzouranis, Panteleimon Pantelidis, Kyriakos Dimitriadis, Konstantinos Tsioufis, Dimitris Tousoulis

引用次数: 0

Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis. 遗传性ATTR淀粉样变中中枢神经系统并发症的发病机制、表现、诊断和治疗。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2024-12-03 DOI: 10.1080/13506129.2024.2435573

Yoshiki Sekijima, Luísa Sousa

{"title":"Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.","authors":"Yoshiki Sekijima, Luísa Sousa","doi":"10.1080/13506129.2024.2435573","DOIUrl":"10.1080/13506129.2024.2435573","url":null,"abstract":"The clinical efficacy of transthyretin (TTR) tetramer stabilisers and TTR gene silencers in addition to liver transplantation has been established for hereditary ATTR (ATTRv) amyloidosis. Accordingly, non-central nervous system (CNS) systemic amyloidosis manifestations, such as peripheral neuropathy and cardiomyopathy, are now being overcome. However, emerging disease-modifying therapeutics have limited effects on CNS amyloidosis since they target the blood-circulating TTR produced in the liver, and not the cerebral spinal fluid (CSF) TTR synthesised in the choroid plexus. CNS involvement is therefore becoming the most common and severe complication in patients with ATTRv amyloidosis, including transient focal neurologic episodes, haemorrhagic and ischaemic stroke, cognitive decline, and cranial nerve dysfunction. Pathologically, extensive amyloid depositions are observable in the leptomeninges and leptomeningeal vessels, which are in direct contact with the CSF. Amyloid positron emission tomography is a useful biomarker for the early detection and treatment evaluation of early-onset ATTRv amyloidosis with the V30M (p.V50M) variant. Treatment-wise, blood-brain barrier-permeable stabilisers, intrathecal injection of silencers, and monoclonal antibodies against misfolded TTR and/or ATTR amyloid may potentially ameliorate CNS ATTR amyloidosis. The development of novel imaging/CSF biomarkers and disease-modifying therapies are the greatest unmet medical need in ATTRv amyloidosis and require further clinical trials.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"117-128"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Previous surgery for lumbar spinal stenosis and association with amyloidosis and heart failure - A Danish nationwide study. 既往腰椎管狭窄手术与淀粉样变性和心力衰竭的关系——丹麦一项全国性研究。

IF 5.2 2区医学

Amyloid-Journal of Protein Folding Disorders Pub Date : 2025-06-01 Epub Date: 2025-01-30 DOI: 10.1080/13506129.2025.2456802

Navid Noory, Eva Havers-Borgersen, Adelina Yafasova, Oscar Westin, Mathew S Maurer, Lars Køber, Finn Gustafsson, Emil Fosbøl

{"title":"Previous surgery for lumbar spinal stenosis and association with amyloidosis and heart failure - A Danish nationwide study.","authors":"Navid Noory, Eva Havers-Borgersen, Adelina Yafasova, Oscar Westin, Mathew S Maurer, Lars Køber, Finn Gustafsson, Emil Fosbøl","doi":"10.1080/13506129.2025.2456802","DOIUrl":"10.1080/13506129.2025.2456802","url":null,"abstract":"Introduction: Cardiac Amyloidosis (CA) is characterised by amyloid fibril deposits causing heart failure (HF). Lumbar spinal stenosis (LSS) is recognised as a potential red flag for CA, but the association remains underexplored in large-scale studies.Methods: This nationwide registry-based cohort study in Denmark included subjects ≥60 years with a history of LSS surgery. LSS patients were matched 1:1 with controls by age, sex, ischaemic heart disease, chronic obstructive lung disease, chronic kidney disease, diabetes, and atrial fibrillation.Results: A total of 44,548 LSS surgery patients and matched controls were included (median age 71.5 years, 56.2% women). The cumulative incidence of amyloidosis after 10 years was higher in the LSS group (0.16% vs. 0.08%, HR 2.29 [95% CI 1.46-3.60]) after adjustment for malignancy, hypertension, and liver disease. The cumulative incidence of HF after 10 years was 10.1% in LSS patients compared with 7.5% in controls (HR 1.28 [95% CI 1.22-1.35], p < 0.0001).Conclusions: In this nationwide cohort study, LSS surgery was associated with a significantly higher risk of amyloidosis and HF. Prospective studies are warranted to explore the association further.","PeriodicalId":50964,"journal":{"name":"Amyloid-Journal of Protein Folding Disorders","volume":" ","pages":"154-160"},"PeriodicalIF":5.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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