Article
Clinical Neurology
Kang Du, Ke Xu, Si Cheng, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Lingchao Meng
Summary: This study found that CIDP patients had larger CSAs than TTR-FAP patients, especially at certain sites. The CSA variability of median nerves showed high sensitivity and specificity in distinguishing between CIDP and TTR-FAP.
FRONTIERS IN NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Maike F. Dohrn, Sandra Ihne, Ute Hegenbart, Jessica Medina, Stephan L. Zuchner, Teresa Coelho, Katrin Hahn
Summary: The liver-derived transport protein transthyretin (TTR) is responsible for systemic hereditary and wild-type amyloidosis. Approved therapies include TTR stabilization and knockdown. Factors influencing the disease include tetramer dissociation, genetic mutations, and external factors, while approved small molecule drugs and siRNA have shown effectiveness in reducing TTR levels and improving patients' quality of life.
JOURNAL OF NEUROCHEMISTRY
(2021)
Article
Immunology
Joao Moreira, Susete Costelha, Margarida Saraiva, Maria Joao Saraiva
Summary: Inflammation is a key feature of neurodegenerative disorders like ATTRv. Compared to wild type animals, chemokine expression is significantly downregulated in the peripheral nervous system of a mouse model of the disease, possibly due to a mechanism that leads to the inactivation of TTR activation in patients.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Ketty Dugo, Francesca Bruno, Valentina Sturiale, Desiree Brancato, Salvatore Saccone, Concetta Federico
Summary: Point mutations of the TTR gene are associated with hATTR, requiring further investigation into their impact on expressivity, complexity, progression, and transmission. Emphasis should be placed on researching somatic mosaicism to explain the complexity of clinical features, estimate new case numbers, and focus on early personalized gene therapy.
Article
Clinical Neurology
Alessandro Salvalaggio, Daniele Coraci, Mario Cacciavillani, Laura Obici, Anna Mazzeo, Marco Luigetti, Francesca Pastorelli, Marina Grandis, Tiziana Cavallaro, Giulia Bisogni, Alessandro Lozza, Chiara Gemelli, Luca Gentile, Mario Ermani, Gian Maria Fabrizi, Rosaria Plasmati, Marta Campagnolo, Francesca Castellani, Roberto Gasparotti, Carlo Martinoli, Luca Padua, Chiara Briani
Summary: This study aimed to explore early diagnostic red flags for hereditary transthyretin amyloidosis (ATTRv) patients with carpal tunnel syndrome (CTS) and/or polyneuropathy using nerve ultrasound. Results showed a morpho-functional dissociation of the median nerve in CTS subjects with TTR gene mutation and larger nerve cross-section area (CSA) in polyneuropathy patients compared to pre-symptomatic carriers, particularly at the brachial plexi. These ultrasound patterns may aid in the early diagnosis and monitoring of ATTRv carriers.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Thomas H. Brannagan, Teresa Coelho, Annabel K. Wang, Michael J. Polydefkis, Peter J. Dyck, John L. Berk, Brian Drachman, Peter Gorevic, Carol Whelan, Isabel Conceicao, Violaine Plante-Bordeneuve, Giampaolo Merlini, Laura Obici, Josep Maria Campistol Plana, Josep Gamez, Arnt Kristen, Anna Mazzeo, Luca Gentile, Arvind Narayana, Kemi Olugemo, Peter Aquino, Merrill D. Benson, Morie Gertz
Summary: Inotersen treatment for over 3 years slowed the progression of polyneuropathy associated with hATTR, with no new safety signals observed.
JOURNAL OF NEUROLOGY
(2022)
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
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
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
Genetics & Heredity
Minas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, Miltiadis Tsilimbaris, Kleita Michaelidou, Lambros Mathioudakis, Anastasios Marinis, Emmanouil Giannakoudakis, Cleanthe Spanaki, Irene Skoula, Sofia Erimaki, Georgios Amoiridis, Georgios Koutsis, Sofia Koukouraki, Kostas Stylianou, Andreas Plaitakis, Panayiotis D. Mitsias, Ioannis Zaganas
Summary: Our study revealed that the prevalence of hATTR in Crete is one of the world's highest. Three different pathogenic TTR variants causing distinct clinical phenotypes were identified in this relatively small population pool.
NEUROLOGY-GENETICS
(2022)
Article
Clinical Neurology
Kang Du, Ke Xu, Xujun Chu, Yuwei Tang, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Lingchao Meng
Summary: Autonomic dysfunction is common in transthyretin familial amyloid polyneuropathy (TTR-FAP), and vagus nerve (VN) enlargement is prevalent among TTR-FAP patients. Vagus nerve ultrasonography may be an important clinical tool for assessing the severity of autonomic dysfunction in TTR-FAP, with high sensitivity and specificity in distinguishing TTR-FAP from healthy controls.
JOURNAL OF NEUROIMAGING
(2022)
Article
Biochemistry & Molecular Biology
Sara Cavaco, Ana Martins da Silva, Joana Fernandes, Ana Paula Sousa, Cristina Alves, Marcio Cardoso, Armando Teixeira-Pinto, Teresa Coelho
Summary: This study aimed to explore cognitive dysfunction in ATTR V30M amyloidosis patients whose disease course was modified by liver transplant. The study found that disease severity and patient age were significantly associated with cognitive dysfunction and could potentially predict it. The level of cognitive dysfunction may be related to certain clinical variables.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2023)
Article
Ophthalmology
Ana Marta, Joao Heitor Marques, Andre Ferreira, Joao Coelho, Joao Melo Beirao
Summary: Comparison of choroidal characteristics between patients with hereditary transthyretin amyloidosis and those without the disease showed significant differences, which may contribute to better monitoring and evaluation of the condition.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
(2022)
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
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)