Review
Clinical Neurology
Loris Poli, Beatrice Labella, Stefano Cotti Piccinelli, Filomena Caria, Barbara Risi, Simona Damioli, Alessandro Padovani, Massimiliano Filosto
Summary: Amyloidoses are a group of diseases characterized by the accumulation of insoluble misfolded protein material called amyloid. Transthyretin amyloidosis (ATTR) is a subtype related to abnormalities in the transthyretin protein. It can be hereditary or occur spontaneously, and affects multiple vital organs. Timely diagnosis is crucial due to the availability of effective treatments.
FRONTIERS IN NEUROLOGY
(2023)
Article
Medicine, General & Internal
Julian D. Gillmore, Ed Gane, Jorg Taubel, Justin Kao, Marianna Fontana, Michael L. Maitland, Jessica Seitzer, Daniel O'Connell, Kathryn R. Walsh, Kristy Wood, Jonathan Phillips, Yuanxin Xu, Adam Amaral, Adam P. Boyd, Jeffrey E. Cehelsky, Mark D. McKee, Andrew Schiermeier, Olivier Harari, Andrew Murphy, Christos A. Kyratsous, Brian Zambrowicz, Randy Soltys, David E. Gutstein, John Leonard, Laura Sepp-Lorenzino, David Lebwohl
Summary: The gene-editing therapeutic agent NTLA-2001 effectively reduced serum TTR protein concentrations in patients with ATTR amyloidosis, showing potential safety and pharmacodynamic effects in clinical studies.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Multidisciplinary Sciences
Dayoung Kim, Jeeyoung Oh, Hong Ki Min, Hae-Rim Kim, Kyomin Choi
Summary: This cross-sectional study retrospectively analyzed the outcomes of nailfold capillaroscopy (NFC) and clinical characteristics in patients and asymptomatic carriers with transthyretin (TTR) gene mutation. The study found that all participants showed microvascular abnormalities in NFC, highlighting the importance of early identification of carriers who may progress to symptomatic patients.
SCIENTIFIC REPORTS
(2022)
Article
Clinical Neurology
Serena Zampino, Farooq H. Sheikh, Joban Vaishnav, Daniel Judge, Baohan Pan, Amrita Daniel, Emily Brown, Gigi Ebenezer, Michael Polydefkis
Summary: This study describes the neurological and cardiac characteristics of common US ATTR mutations V122I, L58H, and late-onset V30M in patients with hereditary transthyretin amyloidosis. The results indicate that there are clinical differences among these mutations, including age of onset, sex distribution, neurological impairment scores, and cardiac indicators. These findings have important implications for the diagnosis and clinical management of ATTR mutations.
Article
Biochemistry & Molecular Biology
Pierre Socie, Anouar Benmalek, Cecile Cauquil, Eve Piekarski, Ilias Kounis, Ludivine Eliahou, Antoine Rousseau, Francois Rouzet, Andoni Echaniz-Laguna, Didier Samuel, David Adams, Michel S. Slama, Vincent Algalarrondo
Summary: By stabilizing transthyretin, tafamidis delays progression of amyloidosis due to transthyretin variant (ATTRv) and replaced liver transplantation (LT) as the first-line therapy. This study compared the effects of these two treatment strategies and found that patients treated with tafamidis had longer survival but higher risks of cardiac and neurological deterioration compared to liver transplantation.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2023)
Article
Clinical Neurology
Shin-Joe Yeh, Ti-Yen Yeh, Yi-Shiang Wang, Chi-Chao Chao, Shiou-Ru Tzeng, Tsz-Yi Tang, Jung-Hsien Hsieh, Yu-Yu Kan, Wei-Kang Yang, Sung-Tsang Hsieh
Summary: Microangiopathy with thromboinflammation is characteristic of advanced-stage ATTRv nerves, which provides an add-on mechanism and therapeutic target for nerve degeneration.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
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.
Review
Orthopedics
Emre Aldinc, Courtney Campbell, Finn Gustafsson, Abigail Beveridge, Richard Macey, Laura Marr, Catherine Summers, Dafang Zhang
Summary: This review explores the association of musculoskeletal manifestations with ATTR amyloidosis and the delay in diagnosis, highlighting the need for early detection by orthopedic surgeons for timely treatment referrals and effective management.
BMC MUSCULOSKELETAL DISORDERS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jerome Hodel, Samir Benadjaoud, Mohamed Amine Benadjaoud, Jean-Pascal Lefaucheur, Violaine Plante-Bordeneuve
Summary: This study evaluated the ability of magnetic resonance neurography (MRN) to distinguish patients with hereditary transthyretin-related amyloidosis with polyneuropathy (ATTRv-PN) and assessed its prognostic value. The results showed that LSP root enlargement and increased intraneural signal were closely associated with clinical impairment in patients.
EUROPEAN RADIOLOGY
(2022)
Article
Multidisciplinary Sciences
Takahiro Kawaji, Tomoki Sato
Summary: We retrospectively evaluated the surgical outcomes of ab interno suture trabeculotomy (SLOT) for secondary glaucoma in patients with hereditary transthyretin amyloidosis. The results suggest that SLOT ab interno may not have sufficient long-term effects on secondary glaucoma due to ATTRv amyloidosis.
SCIENTIFIC REPORTS
(2022)
Article
Clinical Neurology
Juan Gonzalez-Moreno, Ines Losada-Lopez, Eugenia Cisneros-Barroso, Pablo Garcia-Pavia, Jose Gonzalez-Costello, Francisco Munoz-Beamud, Josep Maria Campistol, Roberto Fernandez-Torron, Doug Chapman, Leslie Amass
Summary: The analysis of symptomatic ATTR amyloidosis patients in Spain revealed significant phenotypic heterogeneity, with predominant genotypes being Val30Met mutation or ATTRwt. Clinical presentation mainly involves neurological, cardiac, or mixed symptoms, highlighting the importance of comprehensive neurologic and cardiac evaluations.
NEUROLOGY AND THERAPY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Maria Papathanasiou, Lukas Kessler, Frank M. Bengel, Aiste-Monika Jakstaite, David Kersting, Zohreh Varasteh, Peter Luedike, Alexander Carpinteiro, Ken Herrmann, Tienush Rassaf, Christoph Rischpler
Summary: Cardiac transthyretin amyloidosis is a deadly infiltrative cardiomyopathy with no specific biomarkers to assess disease activity and treatment response. This study found that treatment with tafamidis resulted in regression of myocardial 99mTc-DPD uptake, suggesting that 99mTc-DPD scintigraphy could serve as a useful imaging biomarker for treatment response evaluation.
JOURNAL OF NUCLEAR MEDICINE
(2023)
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
Clinical Neurology
Elisa Vegezzi, Andrea Cortese, Niels Bergsland, Roberta Mussinelli, Matteo Paoletti, Francesca Solazzo, Riccardo Curro, Lucia Ascagni, Ilaria Callegari, Ilaria Quartesan, Alessandro Lozza, Xeni Deligianni, Francesco Santini, Enrico Marchioni, Giuseppe Cosentino, Enrico Alfonsi, Cristina Tassorelli, Stefano Bastianello, Giampaolo Merlini, Giovanni Palladini, Laura Obici, Anna Pichiecchio
Summary: This study investigates the role of muscle quantitative MRI (qMRI) as an outcome measure in hereditary transthyretin (ATTRv) amyloidosis. The researchers found that patients with ATTRv had significantly higher fat fraction (FF) and water T2 (wT2) values in their muscles compared to healthy controls. These qMRI biomarkers correlated with clinical and neurophysiological measures of disease severity.
JOURNAL OF NEUROLOGY
(2023)
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)