Journal ArticleDOI
Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study
Maarit Tanskanen,Terhi Peuralinna,Tuomo Polvikoski,Irma-Leena Notkola,Raimo Sulkava,John Hardy,Andrew B. Singleton,Sari Kiuru-Enari,Anders Paetau,Pentti J. Tienari,Liisa Myllykangas +10 more
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In this paper, the prevalence and risk factors for SSA in a Finnish autopsied population aged 85 or over, as part of the population-based Vantaa 85+ Autopsy Study (n = 256), were studied.Abstract:
Background. Senile systemic amyloidosis (SSA) is characterized by deposition of wild‐type transthyretin (TTR)‐based amyloid in parenchymal organs in elderly individuals. Previously, no population‐based studies have been performed on SSA.Methods. Here we have studied the prevalence and risk factors for SSA in a Finnish autopsied population aged 85 or over, as part of the population‐based Vantaa 85+ Autopsy Study (n = 256). The diagnosis of SSA was based on histological examination of myocardial samples stained with Congo red and anti‐TTR immunohistochemistry. The genotype frequencies of 20 polymorphisms in 9 genes in subjects with and without SSA were compared.Results. The prevalence of SSA was 25%. SSA was associated with age, myocardial infarctions, the G/G (Val/Val) genotype of the exon 24 polymorphism in the alpha2‐macroglobulin (α2M), and the H2 haplotype of the tau gene (P‐values 0.002, 0.004, 0.042, and 0.016).Conclusion. This population‐based study shows that SSA is very common in old individuals, ...read more
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Journal ArticleDOI
Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.
Julian D. Gillmore,Mathew S. Maurer,Rodney H. Falk,Giampaolo Merlini,Thibaud Damy,Angela Dispenzieri,Ashutosh D. Wechalekar,John L. Berk,John L. Berk,Candida Cristina Quarta,Martha Grogan,Helen J. Lachmann,Sabahat Bokhari,Adam Castano,Sharmila Dorbala,Geoff B. Johnson,Andor W. J. M. Glaudemans,Tamer Rezk,Marianna Fontana,Giovanni Palladini,Paolo Milani,P.L Guidalotti,Katarina Flatman,Thirusha Lane,Frederick W. Vonberg,Carol J. Whelan,James C. Moon,Frederick L. Ruberg,Frederick L. Ruberg,Edward J. Miller,David F. Hutt,Bouke P. C. Hazenberg,Claudio Rapezzi,Philip N. Hawkins +33 more
TL;DR: Bone scintigraphy enables the diagnosis of cardiac ATTR amyloidosis to be made reliably without the need for histology in patients who do not have a monoclonal gammopathy, and proposes noninvasive diagnostic criteria that are applicable to the majority of patients with this disease.
Journal ArticleDOI
Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction
Esther Gonzalez-Lopez,María Gallego-Delgado,Gonzalo Guzzo-Merello,F. Javier de Haro-del Moral,Marta Cobo-Marcos,Carolina Robles,Belén Bornstein,Clara Salas,Enrique Lara-Pezzi,Luis Alonso-Pulpón,Pablo García-Pavía +10 more
TL;DR: ATTRwt is an underdiagnosed disease that accounts for a significant number (13%) of HFpEF cases and the effect of emerging TTR-modifying drugs should be evaluated in these patients.
Journal ArticleDOI
Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review
TL;DR: Previously treatable only by organ transplantation, pharmaceutical therapy that slows or halts ATTR-CM progression and favorably affects clinical outcomes is now available.
Journal ArticleDOI
Transthyretin (TTR) Cardiac Amyloidosis
Frederick L. Ruberg,John L. Berk +1 more
TL;DR: The systemic amyloidoses are a family of diseases induced by misfolded or misassembled proteins that can infiltrate the heart, resulting in progressive diastolic and systolic dysfunction, congestive heart failure, and death.
Journal ArticleDOI
Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis.
Morie A. Gertz,Merrill D. Benson,Peter J. Dyck,Martha Grogan,Terresa Coelho,Márcia N. S. de la Cruz,John L. Berk,Violaine Planté-Bordeneuve,Hartmut Schmidt,Giampaolo Merlini +9 more
TL;DR: Clinicians are guided as to when the disease should be suspected, the appropriate diagnostic evaluation for those with known or suspected amyloidosis, and the interventions currently available for affected patients are reviewed.
References
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Matt Baker,Irene Litvan,Henry Houlden,Jennifer Adamson,Dennis W. Dickson,Jordi Pérez-Tur,John Hardy,T. Lynch,Eileen H. Bigio,Mike Hutton +9 more
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Journal ArticleDOI
Alpha-2 macroglobulin is genetically associated with Alzheimer disease.
Deborah Blacker,Marsha A. Wilcox,Nan M. Laird,Linda Rodes,Steven M. Horvath,Rodney C.P. Go,Rodney T. Perry,Bracie Watson,Susan Spear Bassett,Melvin G. McInnis,Marilyn S. Albert,Bradley T. Hyman,Rudolph E. Tanzi +12 more
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Journal ArticleDOI
Apolipoprotein E, dementia, and cortical deposition of beta-amyloid protein.
Tuomo Polvikoski,Raimo Sulkava,Matti Haltia,Katariina Kainulainen,Alpo Vuorio,Auli Verkkoniemi,Leena Niinistö,Pirjo Halonen,Kimmo Kontula +8 more
TL;DR: Even in elderly subjects without dementia, the apolipoprotein E genotype is related to the degree of deposition of beta-amyloid protein in the cerebral cortex.
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