-
Longitudinal analysis of serum neurofilament light chain levels as marker for neuronal damage in hereditary transthyretin amyloidosis Amyloid (IF 5.5) Pub Date : 2024-03-13 Milou Berends, Anne F. Brunger, Johan Bijzet, Bart-Jan Kroesen, Gea Drost, Fiete Lange, Charlotte E. Teunissen, Sjors in ‘t Veld, Alexander FJE Vrancken, Reinold O. B. Gans, Bouke P. C. Hazenberg, Paul A. van der Zwaag, Hans L. A. Nienhuis
To evaluate serum neurofilament light chain (sNfL) as biomarker of disease onset, progression and treatment effect in hereditary transthyretin (ATTRv) amyloidosis patients and TTR variant (TTRv) ca...
-
Circulating transthyretin and retinol binding protein 4 levels among middle-age V122I TTR carriers in the general population Amyloid (IF 5.5) Pub Date : 2024-03-06 Nicholas S. Hendren, James A. De Lemos, Jarett D. Berry, Julia Kozlitina, Lorena Saelices, Alan X. Ji, Zhili Shao, Chia-Feng Liu, Sonia Garg, Maryjane A. Farr, Mark H. Drazner, W. H. Wilson Tang, Justin L. Grodin
Hereditary transthyretin cardiac amyloidosis (ATTRv-CA) has a long latency phase before clinical onset, creating a need to identify subclinical disease. We hypothesized circulating transthyretin (T...
-
Possible transmission of leukocyte chemotactic factor 2 amyloidosis after interpopulational liver transplantation Amyloid (IF 5.5) Pub Date : 2024-03-05 Yuji Suzuki, Masayoshi Tasaki, Keisuke Kakisaka, Masao Nishiya, Toshiya Nomura, Mitsuki Nakao, Erika Sugawara, Yasuhiro Takikawa, Mitsuharu Ueda
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2024)
-
Gait abnormalities in older adults with transthyretin cardiac amyloidosis Amyloid (IF 5.5) Pub Date : 2024-03-03 Fitsum E. Petros, Alfonsina Mirabal Santos, Adedeji Adeniyi, Sergio Teruya, Jeffeny De Los Santos, Mathew S. Maurer, Sunil K. Agrawal
Transthyretin cardiac amyloidosis (ATTR cardiac amyloidosis) is caused by variant (ATTRv) or wild type (ATTRwt) transthyretin. While gait abnormalities have been studied in younger patients with AT...
-
Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice Amyloid (IF 5.5) Pub Date : 2024-02-13 Antonia S. Carroll, Yousuf Razvi, Luke O’Donnell, Elena Veleva, Amanda Heslegrave, Henrik Zetterberg, Steve Vucic, Matthew C. Kiernan, Alexander M. Rossor, Julian D. Gillmore, Mary M. Reilly
Neurofilament light chain (NfL) has emerged as a sensitive biomarker in hereditary transthyretin amyloid polyneuropathy (ATTRv-PN). We hypothesise that NfL can identify conversion of gene carriers ...
-
Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma Amyloid (IF 5.5) Pub Date : 2024-01-11 Sarah Schreiner, Natalie Berghaus, Alexandra M. Poos, Marc S. Raab, Britta Besemer, Roland Fenk, Hartmut Goldschmidt, Elias K. Mai, Carsten Müller-Tidow, Niels Weinhold, Ute Hegenbart, Stefanie Huhn, Stefan O. Schönland
AL amyloidosis (AL) results from the misfolding of immunoglobulin light chains (IG LCs). Aim of this study was to comprehensively analyse kappa LC sequences from AL patients in comparison with mult...
-
Symptomatic SARS-CoV2 infection associated with high mortality in AA amyloidosis Amyloid (IF 5.5) Pub Date : 2023-12-21 Rim Bourguiba, Alexandre Terré, Lea Savey, Eric Oziol, Thomas Hanslik, Jean-Emmanuel Kahn, Raphael Borie, Alexandre Cez, David Buob, Gilles Grateau, Jean-Jacques Boffa, Sophie Georgin-Lavialle
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
-
Dual AApoAIV amyloidosis and ATTR amyloidosis arising in the same patient: a report of three cases Amyloid (IF 5.5) Pub Date : 2023-12-15 Joanna C. Dalland, Linda N. Dao, Surendra Dasari, Jason D. Theis, April Chiu, Karen L. Rech, Matthew T. Howard, Martha Grogan, Catherine Hagen, Melanie C. Bois, Ellen D. McPhail
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
-
Neurofilament light chain kinetics as a biomarker for polyneuropathy in V122I hereditary transthyretin amyloidosis Amyloid (IF 5.5) Pub Date : 2023-12-11 K. H. Vincent Lau, Tatiana Prokaeva, Luke Zheng, Gheorghe Doros, Michelle C. Kaku, Brian Spencer, John Berk, Vaishali Sanchorawala
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
-
Longitudinal evolution of ventricular function and cardiac magnetic resonance imaging tissue characteristics in tafamidis-treated transthyretin amyloid cardiomyopathy Amyloid (IF 5.5) Pub Date : 2023-12-09 Stephan Dobner, Benedikt Bernhard, Monika Wieser, Andreas Wahl, Anselm W. Stark, Valentin Köchli, Giancarlo Spano, Martina Boscolo Berto, Caroline Johner, Elena Elchinova, Giulin Tanner, Yasaman Safarkhanlo, Stefan Stortecky, Jonathan Schütze, Lukas Hunziker Munsch, Christoph Gräni
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
-
Longitudinal PET/CT imaging with iodine (124I) evuzamitide reveals organ response to plasma cell immunotherapy in a patient with AL amyloidosis Amyloid (IF 5.5) Pub Date : 2023-11-22 Ronald Lands, Emily B. Martin, Dustin Powell, Alan Stuckey, Bryan Whittle, Spencer Guthrie, Renju Raj, Stephen J. Kennel, Jonathan S. Wall
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
-
Identification of calcitonin receptor-stimulating peptide 1-derived amyloid in a feline C-cell carcinoma Amyloid (IF 5.5) Pub Date : 2023-11-19 Tomoaki Murakami, Natsumi Kobayashi, Susumu Iwaide, Yoshiyuki Itoh, Miki Hisada, Takeshi Izawa, Mitsuru Kuwamura
Published in Amyloid: The Journal of Protein Folding Disorders (Ahead of Print, 2023)
-
AA amyloidosis in a father and daughter as complication of PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome Amyloid (IF 5.5) Pub Date : 2023-10-23 Anne F. Brunger, Hans L. A. Nienhuis, Johan Bijzet, Evelien Zonneveld-Huijssoon, Jan S. F. Sanders, Geertje E. Legger, Reinold O.B Gans, Bouke P. C. Hazenberg
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 31, No. 1, 2024)
-
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study Amyloid (IF 5.5) Pub Date : 2023-10-19 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
Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effe...
-
The way to a man’s heart: prostate samples for the early detection of transthyretin cardiomyopathy Amyloid (IF 5.5) Pub Date : 2023-10-11 Lawrence Zeldin, Karan Wats, Kathleen M. O’Toole, Fabrizio Remotti, Mathew S. Maurer
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 31, No. 1, 2024)
-
Inappropriate use of technetium-99m pyrophosphate scanning for the evaluation of transthyretin amyloidosis Amyloid (IF 5.5) Pub Date : 2023-10-06 Crystal Lihong Yan, Nina Thakkar Rivera, James Hoffman
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 31, No. 1, 2024)
-
Heterogeneous worldwide access and pricing of Tafamidis Amyloid (IF 5.5) Pub Date : 2023-10-03 Abdirahman Wardhere, Dimitrios Bampatsias, Nowell Fine, Pablo Garcia-Pavia, Martha Grogan, Arnt V. Kristen, Thibaud Damy, Yoshiki Sekijima, Mathew S. Maurer
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 31, No. 1, 2024)
-
Intra-familial variability of oculoleptomeningeal amyloidosis due to the ATTR I107M (c.381T > G) mutation: diagnostic challenges of a rare phenotype Amyloid (IF 5.5) Pub Date : 2023-09-27 Monica Alcantara, Vera Bril
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 31, No. 1, 2024)
-
Patient-reported outcome measures for transthyretin cardiac amyloidosis: the ITALY study Amyloid (IF 5.5) Pub Date : 2023-09-05 Alberto Aimo, Lucio Teresi, Vincenzo Castiglione, Anna Lisa Picerni, Martina Niccolai, Silvia Severino, Assunta Agazio, Anna Carnevale Baraglia, Laura Obici, Giovanni Palladini, Lucia Ponti, Alessia Argirò, Francesco Cappelli, Federico Perfetto, Matteo Serenelli, Giancarlo Trimarchi, Roberto Licordari, Gianluca Di Bella, Olena Chubuchna, Filippo Quattrone, Sabina Nuti, Sabina De Rosis, Claudio Passino
Transthyretin cardiac amyloidosis (ATTR-CA) has a deep impact on the quality of life (QoL), yet no specific patient-reported outcome measures (PROMs) for ATTR-CA exist.The ITALY study involved 5 It...
-
Reduction in 99mTc-DPD myocardial uptake with therapy of ATTR cardiomyopathy Amyloid (IF 5.5) Pub Date : 2023-08-20 René Rettl, Raffaella Calabretta, Franz Duca, Christina Binder, Christina Kronberger, Robin Willixhofer, Michael Poledniczek, Carolina Donà, Christian Nitsche, Dietrich Beitzke, Christian Loewe, Michaela Auer-Grumbach, Diana Bonderman, Stefan Kastl, Christian Hengstenberg, Roza Badr Eslam, Johannes Kastner, Jutta Bergler-Klein, Marcus Hacker, Andreas Kammerlander
Aims: Novel ribonucleic acid interference (RNAi) therapeutics such as patisiran and inotersen have been shown to benefit neurologic disease course and quality of life in patients with hereditary tr...
-
Correction Amyloid (IF 5.5) Pub Date : 2023-08-10
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 31, No. 1, 2024)
-
Correlation of 99mTc-DPD bone scintigraphy with histological amyloid load in patients with ATTR cardiac amyloidosis Amyloid (IF 5.5) Pub Date : 2023-08-02 Maria Ungericht, Valeria Groaz, Moritz Messner, Thomas Schuetz, Luca Brunelli, Marc-Michael Zaruba, Daniela Lener, Eva Stocker, Axel Bauer, Alexander Stephan Kroiss, Agnes Mayr, Christoph Röcken, Gerhard Poelzl
The significance of measuring 99mTc-labelled-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) in transthyretin (ATTR) cardiac amyloidosis has not been adequately studied. This single-centre...
-
Diagnostic and prognostic contribution of DPD scintigraphy in transthyretin V30M cardiac amyloidosis Amyloid (IF 5.5) Pub Date : 2023-07-26 Maria C. Azevedo Coutinho, Nuno Cortez-Dias, Guilhermina Cantinho, Susana Gonçalves, Nelson Cunha, Tiago Rodrigues, Laura Santos, Isabel Conceição, João Agostinho, Fausto J. Pinto
Early diagnosis and prognostic stratification of cardiac transthyretin amyloidosis are crucial. Although 99mTc 3,3-diphosphono-1,2-propanedicarboxylic acid (DPD) scintigraphy is the preferred metho...
-
Technetium-99m-pyrophosphate imaging-based computed tomography-guided core-needle biopsy of internal oblique muscle in wild-type transthyretin cardiac amyloidosis Amyloid (IF 5.5) Pub Date : 2023-07-24 Koji Takahashi, Yoshiyasu Hiratsuka, Takaaki Iwamura, Daisuke Sasaki, Nobuhisa Yamamura, Sohei Kitazawa, Mitsuharu Ueda, Hiroe Morioka, Takafumi Okura, Daijiro Enomoto, Shigeki Uemura, Taizo Kono, Tomoki Sakaue, Shuntaro Ikeda
Technetium-99m-pyrophosphate (99mTc-PYP) uptake in the internal oblique muscle (IOM), which is often observed in patients with wild-type transthyretin cardiac amyloidosis (ATTR-CA), indicates amylo...
-
Treatment response and neurofilament light chain levels with long-term patisiran in hereditary transthyretin-mediated amyloidosis with polyneuropathy: 24-month results of an open-label extension study Amyloid (IF 5.5) Pub Date : 2023-07-20 Simina Ticau, Emre Aldinc, Michael Polydefkis, David Adams, Teresa Coelho, Mitsuharu Ueda, Cecilia Hale, John Vest, Paul Nioi, the Patisiran Global OLE Collaborators
Longitudinal changes in neurofilament light chain (NfL) levels were evaluated alongside prespecified clinical assessments 24 months into the patisiran Global open-label extension (OLE) study in pat...
-
Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay Amyloid (IF 5.5) Pub Date : 2023-07-17 Teresa Coelho, Angela Dispenzieri, Martha Grogan, Isabel Conceição, Márcia Waddington-Cruz, Arnt V. Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Eve Cariou, Alejandra González-Duarte, Oliver Glass, Doug Chapman, Leslie Amass, on behalf of the THAOS investigators
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 4, 2023)
-
Rare-variant collapsing and bioinformatic analyses for amyloidosis, dementia and Parkinson’s disease in the UK biobank reveal novel susceptibility loci Amyloid (IF 5.5) Pub Date : 2023-07-14 Bengt Zöller, Eric Manderstedt, Christina Lind-Halldén, Christer Halldén
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 4, 2023)
-
Mapping cellular response to destabilized transthyretin reveals cell- and amyloidogenic protein-specific signatures Amyloid (IF 5.5) Pub Date : 2023-07-13 Sabrina Ghosh, Carlos Villacorta-Martin, Jonathan Lindstrom-Vautrin, Devin Kenney, Carly S. Golden, Camille V. Edwards, Vaishali Sanchorawala, Lawreen H. Connors, Richard M. Giadone, George J. Murphy
In ATTR amyloidosis, transthyretin (TTR) protein is secreted from the liver and deposited as toxic aggregates at downstream target tissues. Despite recent advancements in treatments for ATTR amyloi...
-
A rare occurrence and near miss! Should a TTR gene test be routinely performed for suspected ATTR-cardiomyopathy? Amyloid (IF 5.5) Pub Date : 2023-07-11 Bharadwaj Satyavolu, Genise Green, Anthony Jake Demetris, Prem Soman
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 4, 2023)
-
Human lysozyme inhibits the fibrillation of serum amyloid a protein from systemic AA amyloidosis Amyloid (IF 5.5) Pub Date : 2023-07-11 Tim Moderer, Ioana Puşcalău-Gîrţu, Christian Haupt, Julian Baur, Armando Rodríguez-Alfonso, Sebastian Wiese, Christoph Q. Schmidt, Miroslav Malešević, Wolf-Georg Forssmann, Ludger Ständker, Marcus Fändrich
Systemic AA amyloidosis is a world-wide occurring protein misfolding disease in humans and animals that arises from the formation of amyloid fibrils from serum amyloid A (SAA) protein and their dep...
-
Prevalence of amyloid in ligamentum flavum of patients with lumbar spinal stenosis Amyloid (IF 5.5) Pub Date : 2023-07-11 Francesco Marchi, Chiara Kessler, Daniela Distefano, Lodovico Terzi di Bergamo, Luca Fumagalli, Manuela Averaimo, Emanuele Crupi, Fabio Bergamini, Giorgia Melli, Georg Stussi, Davide Rossi, Claudio Gobbi, Paolo Ripellino, Emanuele Pravatà, Dominique E. Kuhlen, Christoph Röcken, Pietro Scarone, Bernhard Gerber, Adalgisa Condoluci
Transthyretin (ATTR) amyloidosis is often diagnosed in an advanced stage, when irreversible cardiac damage has occurred. Lumbar spinal stenosis (LSS) may precede cardiac ATTR amyloidosis by many ye...
-
Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study Amyloid (IF 5.5) Pub Date : 2023-06-28 Grégoire Albenque, Mélanie Bézard, Mounira Kharoubi, Shirley Odouard, Ariane Lunati, Elsa Poullot, Amira Zaroui, Emmanuel Teiger, Luc Hittinger, Vincent Audard, Khalil El Karoui, Benoît Funalot, Pascale Fanen, Thibaud Damy, Silvia Oghina
Hereditary transthyretin (ATTRv) p.Val142Ile (V122I) mutation is the most common inherited cause of cardiac amyloidosis and little is known about the phenotype and outcome of the rare homozygotic g...
-
ATTR- and AFib amyloid - two different types of amyloid in the annular ligament of trigger finger Amyloid (IF 5.5) Pub Date : 2023-06-23 Christian Treitz, Neelis Müller-Marienburg, Rolf Rüdiger Meliß, Peter Urban, Hans-Detlef Axmann, Frank Siebert, Karsten Becker, Klaus Martens, Hans-Michael Behrens, Eva Gericke, Andreas Tholey, Christoph Röcken
Histological examination of tissue specimens obtained during surgical treatment of trigger finger frequently encountered unclassifiable amyloid deposits in the annular ligament. We systematically e...
-
Neuropathy progression in hereditary transthyretin amyloidosis (ATTRv) patients after liver transplantation Amyloid (IF 5.5) Pub Date : 2023-06-23 Catarina Falcão de Campos, Isabel Conceição
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 4, 2023)
-
How well does liver span as part of the consensus criteria for liver involvement in AL amyloidosis perform? Amyloid (IF 5.5) Pub Date : 2023-06-15 Anne F. Brunger, Ronald van Rheenen, Reinold O. B. Gans, Bouke P. C. Hazenberg, Hans L. A. Nienhuis
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 4, 2023)
-
Immunoglobulin light-chain amyloidosis mimicking bulbar amyotrophic lateral sclerosis Amyloid (IF 5.5) Pub Date : 2023-06-09 Antoine Pegat, Emilien Bernard
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 3, 2023)
-
Role of complementarity-determining regions 1 and 3 in pathologic amyloid formation by human immunoglobulin κ1 light chains Amyloid (IF 5.5) Pub Date : 2023-05-22 Elena S. Klimtchuk, Daniele Peterle, Esther Bullitt, Lawreen H. Connors, John R. Engen, Olga Gursky
Immunoglobulin light chain (LC) amyloidosis is a life-threatening disease complicated by vast numbers of patient-specific mutations. We explored 14 patient-derived and engineered proteins related t...
-
A phase 1b dose-escalation study of carfilzomib in combination with thalidomide and dexamethasone in patients with relapsed/refractory systemic immunoglobulin light chain amyloidosis Amyloid (IF 5.5) Pub Date : 2023-05-22 Sriram Ravichandran, Andrew Hall, Matthew Jenner, Mamta Garg, Bhuvan Kishore, Helen Lachmann, Julian Gillmore, Alexandra Pitchford, Jamie B. Oughton, Shameem Mahmood, Sajitha Sachchithantham, Philip Hawkins, Sarah Brown, Ashutosh Wechalekar
Proteasome inhibitors are the backbone of AL amyloidosis treatment – bortezomib being most widely used. Carfilzomib is a proteasome inhibitor licenced to treat multiple myeloma; autonomic and perip...
-
Iatrogenic cerebral amyloid angiopathy rather than sporadic CAA in younger adults with lobar intracerebral haemorrhage Amyloid (IF 5.5) Pub Date : 2023-05-15 J. C. Purrucker, C. Röcken, D. Reuss
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 4, 2023)
-
Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions Amyloid (IF 5.5) Pub Date : 2023-05-04 Lisa Mendelson, Tatiana Prokaeva, K. H. Vincent Lau, Vaishali Sanchorawala, Kristen McCausland, Brian Spencer, Surendra Dasari, Ellen D. McPhail, Michelle C. Kaku
Hereditary gelsolin (AGel) amyloidosis is a systemic disease that is characterised by neurologic, ophthalmologic, dermatologic, and other organ involvements. We describe the clinical features with ...
-
Echocardiographic findings in subjects with an amyloidogenic apolipoprotein A1 pathogenic variant Amyloid (IF 5.5) Pub Date : 2023-03-29 Daniela Tomasoni, Alberto Aimo, Marianna Adamo, Matilde Nardi, Carlo Mario Lombardi, Valentina Regazzoni, Maria Grazia De Angelis, Iacopo Fabiani, Giampaolo Merlini, Roberta Mussinelli, Laura Obici, Giorgia Panichella, Giuseppe Vergaro, Claudio Passino, Francesco Scolari, Stefano Perlini, Michele Emdin, Marco Metra
Abstract Background Very small case series of patients with apolipoprotein A1 (ApoA1) amyloidosis are available. Methods We described the clinical and echocardiographic characteristics of individuals with the pathogenic APOA1 variant Leu75Pro (p. Leu99Pro), referred for cardiac screening. Results We enrolled 189 subjects, 54% men, median age 55 years (interquartile range 42–67), 39% with concomitant
-
Decreased expression of S100A8/A9 in V30M related ATTRv amyloidosis Amyloid (IF 5.5) Pub Date : 2023-03-22 João Moreira, Sofia Martins, Margarida Saraiva, Maria João Saraiva
Abstract Introduction Hereditary Transthyretin Amyloidosis is a rare, progressive and life-threatening systemic disease with predominant peripheral and autonomic nervous system involvement caused by mutation of the transthyretin protein. The most common TTR mutation regarding to ATTRv is a substitution of a Methionine for a Valine at position 30 that predisposes TTR to form aggregates and fibrils.
-
A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an indolent course Amyloid (IF 5.5) Pub Date : 2023-03-15 Eli Muchtar, Surendra Dasari, Jason D. Theis, Laura Ongie, Huong T. Cabral, Ellen D. McPhail, Angela Dispenzieri, Morie A. Gertz, Karen L. Rech
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 3, 2023)
-
Neurofilament light chain as a biomarker for monitoring response to change in treatment in hereditary ATTR amyloidosis Amyloid (IF 5.5) Pub Date : 2023-03-12 Mitsuto Sato, Yusuke Mochizuki, Yusuke Takahashi, Ken Takasone, Emre Aldinc, Simina Ticau, Gang Jia, Yoshiki Sekijima
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 3, 2023)
-
A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis Amyloid (IF 5.5) Pub Date : 2023-02-21 Violaine Planté-Bordeneuve, Farida Gorram, Malin Olsson, Intissar Anan, Anna Mazzeo, Luca Gentile, Eugenia Cisneros-Barroso, Juan Gonzalez-Moreno, Ines Losada, Marcia Waddington-Cruz, Luiz Felipe Pinto, Yeşim Parman, Pascale Fanen, Flora Alarcon, Gregory Nuel
Abstract Background In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease’risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation. Methods Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily)
-
Comparison between tafamidis and liver transplantation as first-line therapy for hereditary transthyretin amyloidosis Amyloid (IF 5.5) Pub Date : 2023-02-16 Pierre Socie, Anouar Benmalek, Cécile Cauquil, Eve Piekarski, Ilias Kounis, Ludivine Eliahou, Antoine Rousseau, François Rouzet, Andoni Echaniz-Laguna, Didier Samuel, David Adams, Michel S Slama, Vincent Algalarrondo
Abstract Background By stabilizing transthyretin, tafamidis delays progression of amyloidosis due to transthyretin variant (ATTRv) and replaced liver transplantation (LT) as the first-line therapy. No study compared these two therapeutic strategies. Methods In a monocentric retrospective cohort analysis, patients with ATTRv amyloidosis treated with either tafamidis or LT were compared using a propensity
-
Steep increase in the number of transthyretin-positive cardiac biopsy cases in Japan: evidence obtained by the nation-wide pathology consultation for the typing diagnosis of amyloidosis Amyloid (IF 5.5) Pub Date : 2023-02-16 Hironobu Naiki, Aina Yamaguchi, Yoshiki Sekijima, Mitsuharu Ueda, Kenichi Ohashi, Kinta Hatakeyama, Yoshihiko Ikeda, Yoshinobu Hoshii, Yukako Shintani-Domoto, Aya Miyagawa-Hayashino, Hanako Tsujikawa, Jin Endo, Tomio Arai, Yukio Ando
Abstract Background In 2019, 2020 and 2022, the Japanese Government approved the use of tafamidis and two technetium-scintigraphies for transthyretin amyloid (ATTR) cardiomyopathy, and announced the patient criteria for tafamidis therapy. In 2018, we had started a nation-wide pathology consultation of amyloidosis. Objective To reveal the impact of approval of tafamidis and technetium-scintigraphy on
-
Impact of cytogenetic abnormalities on treatment outcomes in patients with amyloid light-chain amyloidosis: subanalyses from the ANDROMEDA study Amyloid (IF 5.5) Pub Date : 2023-02-13 Shaji Kumar, Angela Dispenzieri, Divaya Bhutani, Morie Gertz, Ashutosh Wechalekar, Giovanni Palladini, Raymond Comenzo, Rafael Fonseca, Arnaud Jaccard, Efstathios Kastritis, Stefan Schönland, Charles la Porte, Huiling Pei, NamPhuong Tran, Giampaolo Merlini
Abstract Background Cytogenetic abnormalities are common in patients with amyloid light-chain (AL) amyloidosis; some are associated with poorer outcomes. This post hoc analysis of ANDROMEDA evaluated the impact of certain cytogenetic abnormalities on outcomes in this patient population. Methods Patients with newly diagnosed AL amyloidosis were randomised 1:1 to daratumumab, bortezomib, cyclophosphamide
-
Factors affecting the accuracy of amyloidosis identification and referral to a specialty centre Amyloid (IF 5.5) Pub Date : 2023-01-31 Andrew Staron, Lisa M. Mendelson, Tracy Joshi, Frederick L. Ruberg, Vaishali Sanchorawala
Abstract Objective Diagnostic algorithms for amyloidosis have evolved over the past decade, particularly with the incorporation of imaging-based techniques to detect amyloid cardiomyopathy. We sought to identify the key sources of amyloidosis misidentification in the community, which lead to false positive referrals to a tertiary centre. Methods We conducted a retrospective review of all referrals
-
Tafamidis concentration required for transthyretin stabilisation in cerebrospinal fluid Amyloid (IF 5.5) Pub Date : 2023-01-24 Felix J. Tsai, Marcus Jaeger, Teresa Coelho, Evan T. Powers, Jeffery W. Kelly
Abstract Background Hereditary transthyretin (TTR) amyloidosis (ATTRv) initially presents as a polyneuropathy and/or a cardiomyopathy. Central nervous system (CNS) pathology in ATTRv amyloidosis, including focal neurological episodes, dementia, cerebrovascular bleeding, and seizures, appears around a decade later. Wild-type (WT) TTR amyloidosis (ATTRwt) causes a cardiomyopathy. CNS pathology risk likely
-
Apolipoprotein A-IV amyloidosis in a cotton-top tamarin (Saguinus oedipus) Amyloid (IF 5.5) Pub Date : 2023-01-20 Niki Sedghi Masoud, Susumu Iwaide, Yoshiyuki Itoh, Miki Hisada, Yumi Une, Tomoaki Murakami
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 3, 2023)
-
-
Collagen inhibits phagocytosis of amyloid in vitro and in vivo and may act as a ‘don’t eat me’ signal Amyloid (IF 5.5) Pub Date : 2022-12-21 Joseph W. Jackson, James S. Foster, Emily B. Martin, Sallie Macy, Craig Wooliver, Manasi Balachandran, Tina Richey, R. Eric Heidel, Angela D. Williams, Stephen J. Kennel, Jonathan S. Wall
Abstract Background Systemic amyloidosis refers to a group of protein misfolding disorders characterized by the extracellular deposition of amyloid fibrils in organs and tissues. For reasons heretofore unknown, amyloid deposits are not recognized by the immune system, and progressive deposition leads to organ dysfunction. Methods In vitro and in vivo phagocytosis assays were performed to elucidate
-
Cardiac amyloidosis remains significantly underdiagnosed in patients undergoing TAVR: analysis of National Inpatient Sample Amyloid (IF 5.5) Pub Date : 2022-12-21 Dimitrios Terentes-Printzios, Alexios S. Antonopoulos, Mohamed Omer, Ioannis Panagiotopoulos, Konstantinos Toutouzas, Konstantinos Tsioufis, Islam Elgendy, Charalambos Vlachopoulos
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 2, 2023)
-
The impact of Post-Transplant doxycycline in AL amyloidosis – updated results after Long-Term follow up Amyloid (IF 5.5) Pub Date : 2022-12-19 Nadine Abdallah, Angela Dispenzieri, Eli Muchtar, Francis K. Buadi, Prashant Kapoor, Martha Q. Lacy, Yi L. Hwa, Amie Fonder, Miriam A. Hobbs, Suzanne R. Hayman, Nelson Leung, David Dingli, Ronald S. Go, Yi Lin, Wilson I. Gonsalves, Moritz Binder, Taxiarchis Kourelis, Rahma Warsame, Robert A. Kyle, S. Vincent Rajkumar, Morie A. Gertz, Shaji K. Kumar
The current treatment paradigm of AL amyloidosis lacks effective fibril-directed therapies. Doxycycline has been shown to have anti-fibril properties in preclinical models. In 2012, we reported tha...
-
Quantitative sensory testing: a good tool to identify subclinical neuropathy in ATTRV30M amyloidosis patients? Amyloid (IF 5.5) Pub Date : 2022-12-15 Isabel Conceição, Isabel de Castro, Andrés Diaz, José Castro
Abstract Background Quantitative sensory testing (QST) has been one of the neurophysiological tools used for follow-up and disease progression assessment in ATTRv amyloidosis. We aimed to detect the utility of QST in identifying subclinical neuropathic involvement in ATTRV30M amyloidosis carriers. Methods A cohort of ATTRV30M amyloidosis carriers were assessed with vibratory (VDT) and cooling (CDT)
-
Macrophages in the reticuloendothelial system inhibit early induction stages of mouse apolipoprotein A-II amyloidosis Amyloid (IF 5.5) Pub Date : 2022-12-10 Hiroki Miyahara, Jian Dai, Ying Li, Xiaoran Cui, Hibiki Takeuchi, Naomi Hachiya, Fuyuki Kametani, Masahide Yazaki, Masayuki Mori, Keiichi Higuchi
Abstract Amyloidosis refers to a group of degenerative diseases that are characterized by the deposition of misfolded protein fibrils in various organs. Deposited amyloid may be removed by a phagocyte-dependent innate immune system; however, the precise mechanisms during disease progression remain unclear. We herein investigated the properties of macrophages that contribute to amyloid degradation and
-
A second case of liraglutide-type localised amyloidosis Amyloid (IF 5.5) Pub Date : 2022-12-08 Sara Muhammad, Ellen D. McPhail, W. Oliver Tobin, Surendra Dasari, Jason Theis, Julie A. Vrana, Elie Naddaf
Published in Amyloid: The Journal of Protein Folding Disorders (Vol. 30, No. 2, 2023)
-
Characterising diflunisal as a transthyretin kinetic stabilizer at relevant concentrations in human plasma using subunit exchange Amyloid (IF 5.5) Pub Date : 2022-11-29 Felix J. Tsai, Luke T. Nelson, Gabriel M. Kline, Marcus Jäger, John L. Berk, Yoshiki Sekijima, Evan T. Powers, Jeffery W. Kelly
Abstract Transthyretin (TTR) dissociation is the rate limiting step for both aggregation and subunit exchange. Kinetic stabilisers, small molecules that bind to the native tetrameric structure of TTR, slow TTR dissociation and inhibit aggregation. One such stabiliser is the non-steroidal anti-inflammatory drug (NSAID), diflunisal, which has been repurposed to treat TTR polyneuropathy. Previously, we
-
Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee Amyloid (IF 5.5) Pub Date : 2022-11-24 Joel N. Buxbaum, Angela Dispenzieri, David S. Eisenberg, Marcus Fändrich, Giampaolo Merlini, Maria J. M. Saraiva, Yoshiki Sekijima, Per Westermark
Abstract The Nomenclature Committee of the International Society of Amyloidosis met at the XVIII International Symposium on Amyloidosis in September and virtually in October 2022 with discussions resulting in this upgraded nomenclature recommendation. The nomenclature principles remain unchanged but there is an ongoing discussion regarding the importance and varying nature of intracellular protein