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Annals of Medicine Volume 53, 2021 - Issue 1
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Medical Genetics & Genomics

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

Volha Skrahinaa CENTOGENE GmbH, Rostock, GermanyView further author information
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Ulrike Grittnera CENTOGENE GmbH, Rostock, Germany;b Institute of Biometry and Clinical Epidemiology, Charité–Universitätsmedizin Berlin, Berlin, Germany;c Berlin Institute of Health, Berlin, GermanyORCID Iconhttps://orcid.org/0000-0003-2595-0224View further author information
ORCID Icon,
Christian Beetza CENTOGENE GmbH, Rostock, GermanyView further author information
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Thomas Skripuletzd Department of Neurology, Hannover Medical School, Hannover, GermanyView further author information
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Martin Juenemanne Department of Neurology, University Hospital Giessen and Marburg, Giessen, GermanyView further author information
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Heidrun H. Krämere Department of Neurology, University Hospital Giessen and Marburg, Giessen, GermanyView further author information
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Katrin Hahnf Department of Neurology, Charité–Universitätsmedizin Berlin, Berlin, GermanyView further author information
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Andreas Riethg Department of Cardiology, Kerckhoff Heart and Lung Center, Bad Nauheim, GermanyView further author information
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Volker Schaechingerh Department of Cardiology, Klinikum Fulda, Fulda, GermanyView further author information
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Monica Patteni Department of Cardiology, University Heart and Vascular Center, Hamburg, GermanyView further author information
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Christian Tanislavj Department of Neurology, Evangelisches Jung Stilling Krankenhaus GmbH, Siegen, GermanyView further author information
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Stephan Achenbachk Department of Cardiology, Erlangen University Hospital, Erlangen, GermanyView further author information
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Birgit Assmusl Division of Cardiology and Angiology, University Hospital Giessen and Marburg, Giessen, GermanyView further author information
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Fabian Knebelc Berlin Institute of Health, Berlin, Germany;m Medizinische Klinik mit Schwerpunkt Kardiologie und Angiologie, Charité–Universitätsmedizin Berlin, Berlin, Germany;n German Centre for Cardiovascular Research, Berlin, GermanyView further author information
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Stefan Gingeled Department of Neurology, Hannover Medical School, Hannover, GermanyView further author information
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Aliaksandr Skrahina CENTOGENE GmbH, Rostock, GermanyView further author information
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Jörg Hartkampa CENTOGENE GmbH, Rostock, GermanyCorrespondence[email protected]
View further author information
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Toni M. Förstera CENTOGENE GmbH, Rostock, GermanyView further author information
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Sabine Roesnera CENTOGENE GmbH, Rostock, GermanyView further author information
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Catarina Pereiraa CENTOGENE GmbH, Rostock, GermanyView further author information
&
Arndt Rolfsa CENTOGENE GmbH, Rostock, Germany;o University Medicine, University Rostock, Rostock, GermanyView further author information
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Pages 1787-1796 | Received 13 Feb 2021, Accepted 28 Sep 2021, Published online: 16 Oct 2021

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Kristin Samuelsson, Ana Jovanovic, Karl Egervall, Intissar Anan, Jonas Wixner & Rayomand Press. (2022) Hereditary transthyretin amyloidosis in Sweden: Comparisons between a non-endemic and an endemic region. Amyloid 29:4, pages 220-227.
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Guillaume Fargeot, Andoni Echaniz-Laguna, Céline Labeyrie, Juliette Svahn, Jean-Philippe Camdessanché, Pascal Cintas, Jean-Baptiste Chanson, Florence Esselin, Céline Piedvache, Céline Verstuyft, Steeve Genestet, Emmeline Lagrange, Laurent Magy, Yann Péréon, Sabrina Sacconi, Aissatou Signate, Aleksandra Nadaj-Pakleza, Frédéric Taithe, Karine Viala, Céline Tard, Vianney Poinsignon, Cécile Cauquil, Shahram Attarian & David Adams. Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study. Amyloid 0:0, pages 1-8.
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Articles from other publishers (13)

David Adams, Yoshiki Sekijima, Isabel Conceição, Marcia Waddington-Cruz, Michael Polydefkis, Andoni Echaniz-Laguna & Mary M Reilly. (2023) Hereditary transthyretin amyloid neuropathies: advances in pathophysiology, biomarkers, and treatment. The Lancet Neurology 22:11, pages 1061-1074.
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Teresa Coelho, Wilson MarquesJrJr, Noel R. Dasgupta, Chi-Chao Chao, Yeşim Parman, Marcondes Cavalcante FrançaJrJr, Yuh-Cherng Guo, Jonas Wixner, Long-Sun Ro, Cristian R. Calandra, Pedro A. Kowacs, John L. Berk, Laura Obici, Fabio A. Barroso, Markus Weiler, Isabel Conceição, Shiangtung W. Jung, Gustavo Buchele, Michela Brambatti, Jersey Chen, Steven G. Hughes, Eugene Schneider, Nicholas J. Viney, Ahmad Masri, Morie R. Gertz, Yukio Ando, Julian D. Gillmore, Sami Khella, P. James B. Dyck, Márcia Waddington Cruz, Anna Mazzeo, Aikaterini Papagianni, Mazen Dimachkie, Ioannis Zaganas, Edward Gane, Marco Luigetti, Lucia Galan Davila, Michelle Mezei, Juan Gonzalez Moreno, Pascal Cintas, Davide Pareyson, Rebecca Traub, Julie Khoury, Conrado Estol, Merrilee Needham, David Adams, Michael Polydefkis, Thomas BrannaganIIIIII, Vera Bril, Shahram Attarian, Marcelo Rugiero, Barbara Distad, Eleni Zamba Papanicolaou, Kon-Ping Lin, Merrill Benson & Morton Scheinberg. (2023) Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy. JAMA 330:15, pages 1448.
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Peter H. Jin. (2023) Localization and Diagnostic Evaluation of Peripheral Nerve Disorders. CONTINUUM: Lifelong Learning in Neurology 29:5, pages 1312-1326.
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Esteban Leonardo Calabrese & German Victor Ramon Calabrese. (2023) Síntomas gastrointestinales inespecíficos como forma de presentación de polineuropatía amiloidótica familiar PAF-TTR. Reporte de un caso. Neurología Argentina 15:4, pages 299-303.
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Domenico Plantone, Guido Primiano, Delia Righi, Angela Romano, Marco Luigetti & Nicola De Stefano. (2023) Current Evidence Supporting the Role of Immune Response in ATTRv Amyloidosis. Cells 12:19, pages 2383.
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Ignacio J. Amat-Santos, José R. Delgado-Arana, Ignacio Cruz-González, Hipólito Gutiérrez, Ignacio García-Bolao, Xavier Millán, Gabriela Tirado-Conte, Juan Miguel Ruiz-Nodar, Mohsen Mohandes, Jorge Palazuelos, Francisco Torres Saura, Raquel Del Valle, Ernesto Valero Picher, Jean Carlos Núñez García, Itziar Gómez, Ramón Albarrán Rincón, Dabit Arzamendi, Luis Nombela-Franco, Liza Korniiko, Alejandro Barrero, Sandra Santos-Martínez, Ana Serrador & J. Alberto San Román. (2023) Amiloidosis cardiaca y cierre de aurícula izquierda. Estudio CAMYLAAC. Revista Española de Cardiología 76:7, pages 503-510.
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Ignacio J. Amat-Santos, José R. Delgado-Arana, Ignacio Cruz-González, Hipólito Gutiérrez, Ignacio García-Bolao, Xavier Millán, Gabriela Tirado-Conte, Juan Miguel Ruiz-Nodar, Mohsen Mohandes, Jorge Palazuelos, Francisco Torres Saura, Raquel Del Valle, Ernesto Valero Picher, Jean Carlos Núñez García, Itziar Gómez, Ramón Albarrán Rincón, Dabit Arzamendi, Luis Nombela-Franco, Liza Korniiko, Alejandro Barrero, Sandra Santos-Martínez, Ana Serrador & J. Alberto San Román. (2023) Cardiac amyloidosis and left atrial appendage closure. The CAMYLAAC study. Revista Española de Cardiología (English Edition) 76:7, pages 503-510.
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D. Adams. (2023) Neuropathie amyloïde à transthyrétine : du diagnostic au traitement. Bulletin de l'Académie Nationale de Médecine 207:5, pages 583-593.
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Sami L. Khella. (2022) Noncardiac Manifestations of Hereditary Amyloidosis. The American Journal of Cardiology 185, pages S17-S22.
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Alexios S. Antonopoulos, Ioannis Panagiotopoulos, Alexandrina Kouroutzoglou, Georgios Koutsis, Pantelis Toskas, Georgios Lazaros, Konstantinos Toutouzas, Dimitris Tousoulis, Konstantinos Tsioufis & Charalambos Vlachopoulos. (2022) Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta‐analysis. European Journal of Heart Failure 24:9, pages 1677-1696.
Crossref
A. Hänselmann, D. Berliner, J. Bauersachs & U. Bavendiek. (2022) Cardiac amyloidosis—interdisciplinary approach to diagnosis and therapyKardiale Amyloidose – interdisziplinärer Ansatz bei Diagnose und Therapie. Herz 47:4, pages 324-331.
Crossref
Matthias Schilling. (2022) Gentherapieoptionen der hereditären TransthyretinamyloidoseGene therapy options for hereditary transthyretin-related amyloidosis. Der Nervenarzt 93:6, pages 557-565.
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Maja Ostojic, Sukhraj S Gill, Jose David Avila & Brendan J Carry. (2022) A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy. Cureus.
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