Article
Clinical Neurology
Murva Asad, Niamh Bermingham, Brian McNamara, Peter Kearney, Aisling M. Ryan
Summary: In this study, we described the phenotype of the p.His110Asp mutation in two Irish families. Importantly, we highlighted the cardiac involvement which was previously not emphasized. The discovery of a new unrelated family emphasizes the importance of clinical suspicion even in patients without known family history. We suggest considering this important transthyretin mutation in patients of Irish origin.
JOURNAL OF NEUROLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Thibaud Damy, Arnt Kristen, Ole B. Suhr, Mathew S. Maurer, Violaine Plante-Bordeneuve, Ching-Ray Yu, Moh-Lim Ong, Teresa Coelho, Claudio Rapezzi
Summary: ATTR amyloidosis in continental Western Europe exhibits highly heterogeneous genotypic and phenotypic profiles. Understanding the diversity of the disease across different regions and recognizing the dominant cardiac phenotype resembling hypertrophic cardiomyopathy can improve the clinical recognition of this frequently underdiagnosed condition.
EUROPEAN HEART JOURNAL
(2022)
Article
Medicine, General & Internal
Volha Skrahina, Ulrike Grittner, Christian Beetz, Thomas Skripuletz, Martin Juenemann, Heidrun H. Kraemer, Katrin Hahn, Andreas Rieth, Volker Schaechinger, Monica Patten, Christian Tanislav, Stephan Achenbach, Birgit Assmus, Fabian Knebel, Stefan Gingele, Aliaksandr Skrahin, Joerg Hartkamp, Toni M. Foerster, Sabine Roesner, Catarina Pereira, Arndt Rolfs
Summary: The study found a 1.1% prevalence of Hereditary Transthyretin-Related Amyloidosis among patients with unexplained polyneuropathy and/or cardiomyopathy in Europe. Patients with TTR-positive variants had lower body mass index and later onset of clinical manifestations. Routine genetic testing is recommended for patients with unclear polyneuropathy and/or cardiomyopathy to facilitate earlier diagnosis and treatment initiation.
ANNALS OF MEDICINE
(2021)
Review
Medicine, General & Internal
Courtney M. Campbell, Kathleen Zhang, Daniel J. Lenihan, Ronald Witteles
Summary: The article details the chronological development of therapies for transthyretin amyloidosis (ATTR), including important clinical trials and emerging treatment methods. These new therapies can improve the quality of life and lifespan of ATTR patients, with a bright future outlook for therapy improvements.
AMERICAN JOURNAL OF MEDICINE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Viktor Lofbacka, Jan Axelsson, Bjorn Pilebro, Ole B. Suhr, Per Lindqvist, Torbjorn Sundstrom
Summary: In patients with ATTRv cardiomyopathy, DPD SPECT/CT measures the amyloid distribution and provides information on cardiac amyloid load. DPD amyloid load correlates with functional cardiac parameters.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2021)
Review
Cardiac & Cardiovascular Systems
Alberto Aimo, Vincenzo Castiglione, Claudio Rapezzi, Maria Franzini, Giorgia Panichella, Giuseppe Vergaro, Julian Gillmore, Marianna Fontana, Claudio Passino, Michele Emdin
Summary: This review discusses the strategies for TTR silencing in the treatment of ATTR amyloidosis, including small interfering RNAs, antisense oligonucleotides, and gene editing approaches.
NATURE REVIEWS CARDIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Alejandra Gonzalez-Duarte, Alfredo Ulloa-Aguirre
Summary: TTR amyloidogenesis involves the formation, aggregation, and deposition of amyloid fibrils from tetrameric TTR in different organs and tissues. The molecular causes leading to amyloidosis may differ between different variants, but therapeutic approaches have evolved from orthotopic liver transplants to novel disease-modifying therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Surgery
Antonio Grande-Trillo, Carmen Baliellas, Laura Llado, Carlos Casasnovas, Joaquin Franco-Baux, Laura Gracia-Sanchez, Miguel A. Gomez-Bravo, Emma Gonzalez-Vilatarsana, Luis Caballero-Gullon, Eduardo Echeverri, Jose Gonzalez-Costello
Summary: A study evaluated 23 living recipients of Domino liver transplantation (DLT) for amyloidosis, finding that 35% developed new-onset polyneuropathy and only 1 patient was diagnosed with ATTR cardiomyopathy (ATTR-CM). Evaluation of cardiomyopathy in DLT recipients is challenging, and bone scintigraphy can be helpful for assessing ATTR-CM.
AMERICAN JOURNAL OF TRANSPLANTATION
(2021)
Article
Cardiac & Cardiovascular Systems
Steven Law, Melanie Bezard, Aviva Petrie, Liza Chacko, Oliver C. Cohen, Sriram Ravichandran, Olabisi Ogunbiyi, Mounira Kharoubi, Sashiananthan Ganeshananthan, Sharmananthan Ganeshananthan, Janet A. Gilbertson, Dorota Rowczenio, Ashutosh Wechalekar, Ana Martinez-Naharro, Helen J. Lachmann, Carol J. Whelan, David F. Hutt, Philip N. Hawkins, Thibaud Damy, Marianna Fontana, Julian D. Gillmore
Summary: This study observed 879 patients with ATTR-CM and found that patients with NAC ATTR Stage Ia disease had significant cardiovascular morbidity despite good short- and mid-term survival. The concentration of NT-proBNP and diuretic requirement at diagnosis can be used to further stratify patients with NAC ATTR Stage I ATTR-CM.
EUROPEAN HEART JOURNAL
(2022)
Article
Clinical Neurology
Amir Dori, Michael Arad, Yishay Wasserstrum, Arthur Pollak, Vera Nikitin, Merav Ben-David, Jana Shamash, Ayelet Hashachar Nahum, Efrat Shavit-Stein, Liran Domachevsky, Rafael Kuperstein, Dan Dominissini, Natalia Shelestovich, Menachem Sadeh, Elon Pras, Lior Greenbaum
Summary: This study investigates the early symptoms and diagnostic features of amyloidosis caused by the transthyretin Ser77Tyr mutation in individuals of Jewish Yemenite descent in Israel. The results show that the probability of disease diagnosis increases with age, with initial symptoms commonly being sensory changes in the extremities, and erectile dysfunction being a common symptom in males. Electrophysiological studies reveal neuropathy and skin denervation, and cardiomyopathy is frequently identified. Symptoms may be absent in patients and common in amyloid-negative carriers.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Medicine, General & Internal
Yuya Aono, Yasuhiro Hamatani, Nagaaki Katoh, Mayuko Nakagawa, Katsuya Nakamura, Masahide Yazaki, Fuyuki Kametani, Moritake Iguchi, Ikuko Murakami, Hisashi Ogawa, Mitsuru Abe, Masaharu Akao, Yoshiki Sekijima
Summary: The patient, an 82-year-old Japanese man with no family history of amyloidosis, was diagnosed with severe ATTR amyloid deposits. A genetic analysis revealed a missense variant in the TTR gene, which was predicted to only modestly alter the structure and function of the TTR protein. This variant may be associated with an elderly-onset cardiac-dominant ATTRv phenotype.
Article
Gastroenterology & Hepatology
Adriano-Valerio Schettini, Laura Llado, Julie K. Heimbach, Jose Gonzalez Costello, Marie Tranang, Olivier Van Caenegem, Richard C. Daly, Peter Van den Bergh, Carlos Casanovas, Joan Fabregat, John J. Poterucha, Maxime Foguenne, Bo Goran Ericzon, Jan Lerut
Summary: This research presents a case series of liver recipients with the rare and highly aggressive Val122del mutation in ATTRv amyloidosis. Three patients required staged or simultaneous heart-liver transplant due to rapidly progressing cardiac failure and/or neurologic disability. The study highlights the need to prioritize symptomatic patients on liver and heart waiting lists to prevent irreversible neurological and cardiac damage caused by the aggressive Val122del mutation.
HEPATOBILIARY & PANCREATIC DISEASES INTERNATIONAL
(2021)
Review
Clinical Neurology
Luisa Sousa, Teresa Coelho, Ricardo Taipa
Summary: Hereditary transthyretin amyloidosis primarily affects the peripheral nerves, heart, kidney, and eye, but recent studies have shown increasing involvement of the central nervous system. Symptoms of CNS dysfunction are becoming more apparent in patients with this condition, indicating that it may become a significant issue in patient management in the future.
Article
Genetics & Heredity
Maria S. Saez, Maria A. Aguirre, Diego Perez de Arenaza, Patricia Sorroche, Elsa Nucifora, Maria L. Posadas Martinez
Summary: This study presents the first prevalence report of TTR mutations in a reference center of amyloidosis in Argentina, with the most frequent genetic variant being p.Val50Met. The data demonstrate considerable phenotypic heterogeneity in patients with ATTRv.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Oncology
Melissa R. Tsoi, Jeffrey H. Lin, Ayan R. Patel
Summary: This review provides an overview of the available therapies for treating neuropathic and/or cardiac manifestations of transthyretin amyloidosis (ATTR), as well as investigational therapeutic agents in ongoing clinical trials. Recent findings show advances in noninvasive diagnostic methods for detecting ATTR, enabling earlier diagnosis and treatment initiation. There are now several clinically available ATTR-directed treatments and investigational agents being studied in clinical trials, revolutionizing the management of this historically underdiagnosed disease.
CURRENT ONCOLOGY REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Sandra Gustavsson, Gabriel Granasen, Christer Gronlund, Urban Wiklund, Stellan Morner, Michael Henein, Ole B. Suhr, Per Lindqvist
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2015)
Review
Medicine, General & Internal
Philip N. Hawkins, Yukio Ando, Angela Dispenzeri, Alejandra Gonzalez-Duarte, David Adams, Ole B. Suhr
ANNALS OF MEDICINE
(2015)
Article
Gastroenterology & Hepatology
Jonas Wixner, Torbjorn Sundstrom, Pontus Karling, Intissar Anan, Ole B. Suhr
BMC GASTROENTEROLOGY
(2015)
Article
Genetics & Heredity
Urban Hellman, Hans-Erik Lundgren, Per Westermark, Christina Stafberg, Hareth Nahi, Sascha Tachlinski, Michael Guggi, Max Flogegard, Mehmet Hamid, Stefan A. Escher, Ole B. Suhr
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2015)
Article
Genetics & Heredity
Ole B. Suhr, Teresa Coelho, Juan Buades, Jean Pouget, Isabel Conceicao, John Berk, Hartmut Schmidt, Marcia Waddington-Cruz, Josep M. Campistol, Brian R. Bettencourt, Akshay Vaishnaw, Jared Gollob, David Adams
ORPHANET JOURNAL OF RARE DISEASES
(2015)
Article
Immunology
Bo-Goran Ericzon, Henryk E. Wilczek, Marie Larsson, Priyantha Wijayatunga, Arie Stangou, Joao Rodrigues Pena, Emanuel Furtado, Eduardo Barroso, Jorge Daniel, Didier Samuel, Rene Adam, Vincent Karam, John Poterucha, David Lewis, Ben-Hur Ferraz-Neto, Marcia Waddington Cruz, Miguel Munar-Ques, Juan Fabregat, Shu-ichi Ikeda, Yukio Ando, Nigel Heaton, Gerd Otto, Ole Suhr
Article
Clinical Neurology
Laura Obici, Jan B. Kuks, Juan Buades, David Adams, Ole B. Suhr, Teresa Coelho, Theodore Kyriakides
CURRENT OPINION IN NEUROLOGY
(2016)
Article
Clinical Neurology
David Adams, Ole B. Suhr, Ernst Hund, Laura Obici, Ivailo Tournev, Josep M. Campistol, Michel S. Slama, Bouke P. Hazenberg, Teresa Coelho
CURRENT OPINION IN NEUROLOGY
(2016)
Article
Clinical Neurology
Yesim Parman, David Adams, Laura Obici, Lucia Galan, Velina Guergueltcheva, Ole B. Suhr, Teresa Coelho
CURRENT OPINION IN NEUROLOGY
(2016)
Article
Immunology
Ole B. Suhr, Marie Larsson, Bo-Goran Ericzon, Henryk E. Wilczek
Article
Medicine, General & Internal
Bjorn Pilebro, Ole B. Suhr, Ulf Naslund, Per Westermark, Per Lindqvist, Torbjorn Sundstrom
UPSALA JOURNAL OF MEDICAL SCIENCES
(2016)
Article
Multidisciplinary Sciences
Sandra Arvidsson, Bjorn Pilebro, Per Westermark, Per Lindqvist, Ole B. Suhr
Article
Multidisciplinary Sciences
Ole Bernt Suhr, Jonas Wixner, Intissar Anan, Hans-Erik Lundgren, Priyantha Wijayatunga, Per Westermark, Elisabet Ihse
Article
Medicine, General & Internal
P. Eldhagen, S. Berg, L. H. Lund, P. Sorensson, O. B. Suhr, P. Westermark
Summary: The study found a high prevalence of ATTR deposits in ligament tissue of patients undergoing surgery for lumbar spinal stenosis, but these deposits were not associated with manifest ATTR cardiac amyloidosis. The presence of fibril type A, a history of carpal tunnel syndrome, and ATTR deposits in surrounding tissues suggest that amyloid deposits in ligament tissue may be an early manifestation of systemic ATTR disease.
JOURNAL OF INTERNAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Aubin Michalon, Andreas Hagenbuch, Christian Huy, Evita Varela, Benoit Combaluzier, Thibaud Damy, Ole B. Suhr, Maria J. Saraiva, Christoph Hock, Roger M. Nitsch, Jan Grimm
Summary: Through analyzing memory B cell repertoires of healthy elderly, researchers developed a selective human antibody that removes cardiac amyloid by recruiting phagocytic immune cells.
NATURE COMMUNICATIONS
(2021)