Article
Clinical Neurology
Clemence Durelle, Emilien Delmont, Constance Michel, Amira Trabelsi, Marc-Adrien Hostin, Augustin Ogier, David Bendahan, Shahram Attarian
Summary: This study aimed to quantify fatty infiltration and magnetization transfer ratio in individual muscles of patients with symptomatic and asymptomatic TTR-FAP using magnetic resonance imaging. The results showed elevated fatty infiltration and decreased magnetization transfer ratio in the lower limbs of symptomatic TTR-FAP patients. In asymptomatic patients, elevated fatty infiltration in the gastrocnemius lateralis muscle was observed. Fatty infiltration was significantly correlated with disease duration and neuropathy impairment scores.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Tatsufumi Murakami, Takeshi Yokoyama, Mineyuki Mizuguchi, Shigenobu Tone, Shizuka Takaku, Kazunori Sango, Hirotake Nishimura, Kazuhiko Watabe, Yoshihide Sunada
Summary: In this study, features of FAP with E61K TTR substitution were characterized, showing low amyloidogenic properties in vitro and in vivo. Apoptotic cells were observed in the nerve of patients, and chromatin condensation was confirmed in Schwann cells by electron microscopy. These findings suggest that E61K TTR may not contribute significantly to amyloid fibril formation, but Schwann cell apoptosis could be related to neurodegeneration in FAP.
JOURNAL OF NEUROCHEMISTRY
(2021)
Article
Clinical Neurology
Vanessa Carvalho, Carlota Cunha, Raquel Rocha, Joao Massano, Filipe Correia, Paulo Coelho, Sara Franca, Vitor Tedim Cruz, Catarina Cruto
Summary: In a study of ATTR-FAP patients presenting with transient events, most events were TIA-like or seizures, with some patients experiencing fever. The etiology remains unclear, but brain MRI and EEG abnormalities suggest regional brain dysfunction due to amyloid deposition as a contributing factor.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Sha He, Dongyun Gou, Mengwei Yuan, Jihong Guo, Xiujuan Lv, Ziqian Liu, Xiaowei Ma, Yancong Han
Summary: This study aims to understand the clinical manifestations, electrophysiological characteristics, and outcomes of hormone-related therapy in patients with the TTR Val30Leu mutation in China. The findings suggest that the mutation leads to familial amyloid polyneuropathy with mainly limb sensory or motor disorders or gastrointestinal symptoms or both, as manifested by abnormal nerve conduction velocity observed in electrophysiological examination.
EUROPEAN NEUROLOGY
(2022)
Article
Clinical Neurology
Y. Zhang, Z. Liu, Y. Zhang, H. Wang, X. Liu, S. Zhang, X. Liu, D. Fan
Summary: This study aimed to evaluate the use of in vivo corneal confocal microscopy (CCM) to detect and monitor disease progression in TTR-FAP patients. It found that the area under the ROC curve for FAP with CNFL and IWL exceeded other parameters, demonstrating the sensitivity of IWL as a surrogate for preclinical SFN. The clustering of immature LCs at the inferior whorl area might reflect the inflammatory response of small-fiber nerves at the early stage of the disease.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Cell Biology
Domenico Plantone, Guido Primiano, Delia Righi, Angela Romano, Marco Luigetti, Nicola De Stefano
Summary: This review summarizes the current evidence supporting the role of the immune response in ATTRv amyloidosis, from the pathological mechanisms to the possible therapeutic implications.
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
Clinical Neurology
Tatsufumi Murakami, Hiroyuki Watanabe, Akira Yamamoto, Yoshihide Sunada
Summary: This study found that the volumes of lumbar dorsal root ganglia (DRGs) were enlarged in pre-symptomatic TTR E61K patients, suggesting that DRGs may be the initial lesions in this familial amyloid polyneuropathy (FAP).
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Review
Gastroenterology & Hepatology
Mika S. Buijk, Job B. L. van der Meer, Jan N. M. Ijzermans, Robert C. Minnee, Markus U. Boehnert
Summary: This systematic review found that outcomes of domino liver transplantation (DLT) are comparable to deceased donor liver transplantation (DDLT) in terms of mortality and complications. Although DLT will not solve the problem of organ shortage, transplant programs should consider using DLT to increase the feasibility of liver transplantation.
Article
Clinical Neurology
Wei-Hsiang Tseng, Han-Wei Huang, Chia-Chun Li, Chin-Sung Chang, Wing P. Chan, Kong-Pin Lin, Chih-Hsing Wu
Summary: This study investigated the epidemiological characteristics of hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy in Taiwan using data from the Taiwan National Health Insurance Research Database. The annual incidence and prevalence rates of the disease were relatively low in Taiwan, with a male predominance and a mean age at validation of 62.75 years. Early intervention is crucial for improving the survival rate of patients with this disease.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
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
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)
Article
Biotechnology & Applied Microbiology
G. Chandrasekhar, H. Pengyong, G. Pravallika, L. Hailei, X. Caixia, R. Rajasekaran
Summary: The study aimed to develop a therapeutic candidate to inhibit the pathogenic misfolding of V30M mutant transthyretin (TTR) protein. The antimicrobial peptide NaD1 was chosen due to its aggregating ability, which could compete with the aggregation-prone regions of TTR protein. Two NaD1-derived tetra peptides, CKTE and SKIL, were proposed as initial candidates based on their association with mutant TTR protein. The CKTE tetra peptide showed significant interaction and therapeutic potential in disrupting the beta-sheets and aggregation of V30M TTR protein.
Article
Multidisciplinary Sciences
Qing Dong, Nicholas W. Gentry, Thomas McMahon, Maya Yamazaki, Lorena Benitez-Rivera, Tammy Wang, Li Gan, Louis Ptacek, Ying-Hui Fu
Summary: Studies have shown that mutations in FNSS genes can modulate the development of tau and amyloid pathology in AD, indicating their potential role in neurodegeneration.
Article
Clinical Neurology
Teresa Coelho, Marcia Waddington Cruz, Chi-Chao Chao, Yesim Parman, Jonas Wixner, Markus Weiler, Fabio A. Barroso, Noel R. Dasgupta, Shiangtung W. Jung, Eugene Schneider, Nicholas J. Viney, P. James B. Dyck, Yukio Ando, Julian D. Gillmore, Sami Khella, Morie A. Gertz, Laura Obici, John L. Berk
Summary: This study reports the baseline characteristics of patients enrolled in the NEURO-TTRansform study, which has a global representation and is characteristic of contemporary clinical practice. The majority of patients had early disease onset and had received previous treatment.
NEUROLOGY AND THERAPY
(2023)
Review
Clinical Neurology
Philippe Kerschen, Violaine Plante-Bordeneuve
CURRENT TREATMENT OPTIONS IN NEUROLOGY
(2016)
Article
Clinical Neurology
Violaine Plante-Bordeneuve, Farida Gorram, Hayet Salhi, Tarik Nordine, Samar S. Ayache, Philippe Le Corvoisier, Daniel Azoulay, Cyrille Feray, Thibaud Damy, Jean-Pascal Lefaucheur
JOURNAL OF NEUROLOGY
(2017)
Article
Cardiac & Cardiovascular Systems
Mathew S. Maurer, Mazen Hanna, Martha Grogan, Angela Dispenzieri, Ronald Witteles, Brian Drachman, Daniel P. Judge, Daniel J. Lenihan, Stephen S. Gottlieb, Sanjiv J. Shah, D. Eric Steidley, Hector Ventura, Srinivas Murali, Marc A. Silver, Daniel Jacoby, Savitri Fedson, Scott L. Hummel, Arnt V. Kristen, Thibaud Damy, Violaine Plante-Bordeneuve, Teresa Coelho, Rajiv Mundayat, Ole B. Suhr, Marcia Waddington Cruz, Claudio Rapezzi
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2016)
Article
Clinical Neurology
Violaine Plante-Bordeneuve
JOURNAL OF NEUROLOGY
(2018)
Article
Clinical Neurology
Peter J. Dyck, John C. Kincaid, P. James B. Dyck, Vinay Chaudhry, Namita A. Goyal, Christina Alves, Hayet Salhi, Janice F. Wiesman, Celine Labeyrie, Jessica Robinson-Papp, Marcio Cardoso, Matilde Laura, Katherine Ruzhansky, Andrea Cortese, Thomas H. Brannagan, Julie Khoury, Sami Khella, Marcia Waddington-Cruz, Joao Ferreira, Annabel K. Wang, Marcus V. Pinto, Samar S. Ayache, Merrill D. Benson, John L. Berk, Teresa Coelho, Michael Polydefkis, Peter Gorevic, David H. Adams, Violaine Plante-Bordeneuve, Carol Whelan, Giampaolo Merlini, Stephen Heitner, Brian M. Drachman, Isabel Conceicao, Christopher J. Klein, Morie A. Gertz, Elizabeth J. Ackermann, Steven. G. Hughes, Michelle. L. Mauermann, Rito Bergemann, Karen A. Lodermeier, Jenny L. Davies, Rickey E. Carter, William J. Litchy
Article
Medicine, General & Internal
D. Adams, A. Gonzalez-Duarte, W. D. O'Riordan, C. -C. Yang, M. Ueda, A. V. Kristen, I. Tournev, H. H. Schmidt, T. Coelho, J. L. Berk, K. -P. Lin, G. Vita, S. Attarian, V. Plante-Bordeneuve, M. M. Mezei, J. M. Campistol, J. Buades, T. H. Brannagan, B. J. Kim, J. Oh, Y. Parman, Y. Sekijima, P. N. Hawkins, S. D. Solomon, M. Polydefkis, P. J. Dyck, P. J. Gandhi, S. Goyal, J. Chen, A. L. Strahs, S. V. Nochur, M. T. Sweetser, P. P. Garg, A. K. Vaishnaw, J. A. Gollob, O. B. Suhr
NEW ENGLAND JOURNAL OF MEDICINE
(2018)
Article
Medicine, General & Internal
M. D. Benson, M. Waddington-Cruz, J. L. Berk, M. Polydefkis, P. J. Dyck, A. K. Wang, V. Plante-Bordeneuve, F. A. Barroso, G. Merlini, L. Obici, M. Scheinberg, T. H. Brannagan, W. J. Litchy, C. Whelan, B. M. Drachman, D. Adams, S. B. Heitner, I. Conceicao, H. H. Schmidt, G. Vita, J. M. Campistol, J. Gamez, P. D. Gorevic, E. Gane, A. M. Shah, S. D. Solomon, B. P. Monia, S. G. Hughes, T. J. Kwoh, B. W. McEvoy, S. W. Jung, B. F. Baker, E. J. Ackermann, M. A. Gertz, T. Coelho
NEW ENGLAND JOURNAL OF MEDICINE
(2018)
Article
Genetics & Heredity
Malin Olsson, Nina Norgren, Konen Obayashi, Violaine Plante-Bordeneuve, Ole B. Suhr, Kristina Cederquist, Jenni Jonasson
BMC MEDICAL GENETICS
(2010)
Article
Genetics & Heredity
M. Olsson, U. Hellman, V. Plante-Bordeneuve, J. Jonasson, K. Lang, O. B. Suhr
Article
Biochemistry & Molecular Biology
Bernard Bonaiti, Malin Olsson, Urban Hellman, Ole Suhr, Catherine Bonaiti-Pellie, Violaine Plante-Bordeneuve
EUROPEAN JOURNAL OF HUMAN GENETICS
(2010)
Article
Medicine, General & Internal
Mathew S. Maurer, Jeffrey H. Schwartz, Balarama Gundapaneni, Perry M. Elliott, Giampaolo Merlini, Marcia Waddington-Cruz, Arnt V. Kristen, Martha Grogan, Ronald Witteles, Thibaud Damy, Brian M. Drachman, Sanjiv J. Shah, Mazen Hanna, Daniel P. Judge, Alexandra I. Barsdorf, Peter Huber, Terrell A. Patterson, Steven Riley, Jennifer Schumacher, Michelle Stewart, Marla B. Sultan, Claudio Rapezzi
NEW ENGLAND JOURNAL OF MEDICINE
(2018)
Article
Multidisciplinary Sciences
Flora Alarcon, Violaine Plante-Bordeneuve, Malin Olsson, Gregory Nuel
Article
Biochemistry & Molecular Biology
David Adams, Ivailo L. Tournev, Mark S. Taylor, Teresa Coelho, Violaine Plante-Bordeneuve, John L. Berk, Alejandra Gonzalez-Duarte, Julian D. Gillmore, Soon-Chai Low, Yoshiki Sekijima, Laura Obici, Chongshu Chen, Prajakta Badri, Seth M. Arum, John Vest, Michael Polydefkis
Summary: This study assessed the effectiveness of vutrisiran in patients with hereditary transthyretin amyloidosis. The results showed significant improvements in disease-relevant outcomes and an acceptable safety profile for vutrisiran.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Farida Gorram, Flora Alarcon, Herve Perdry, Berenice Hebrard, Thibaud Damy, Pascale Fanen, Benoit Funalot, Gregory Nuel, Violaine Plante-Bordeneuve
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2017)