Results 21 to 30 of about 2,447 (165)

Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy

Arquivos de Neuro-Psiquiatria
Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years.
Marcus Vinicius Pinto, Amilton Antunes Barreira, Acary Souza Bulle, Marcos Raimundo Gomes de Freitas, Marcondes Cavalcante França Jr, Francisco de Assis Aquino Gondim, Carlo Domenico Marrone, Wilson Marques Jr, Osvaldo J. M. Nascimento, Francisco Tellechea Rotta, Camila Pupe, Márcia Waddington-Cruz   +11 more
doaj   +1 more source

Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil

Arquivos de Neuro-Psiquiatria
Background Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in ...
Luiz Felipe Pinto, Marcus V. Pinto, Paula Accioli, Gabriela Amorim, Renata Gervais de Santa Rosa, Moises Dias, Mariana Guedes, Carlos P. Gomez, Roberto C. Pedrosa, Marcia Waddington-Cruz   +9 more
doaj   +1 more source

Amyloid neuropathy in multiple myeloma and other plasma cell dyscrasias : a hypothesis of the pathogenesis of amyloid neuropathies

, 1983
The development of amyloid neuropathy is an uncommon complication of multiple myeloma. The clinical, electrophysiological and pathological features of 3 such patients are described.
K. P. McAdam, Verghese, Jacob P, McAdam, Keith P.W.J, Bradley, Walter G, R. Nemni, Nemni, Raffaello, J. P. Verghese, W. G. Bradley   +7 more
core   +1 more source

Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)

Arquivos de Neuro-Psiquiatria
Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs.
Márcia Waddington Cruz, Marcus Vinicius Pinto, Luiz Felipe Pinto, Renata Gervais, Moisés Dias, Carlos Perez, Rajiv Mundayat, Moh-Lim Ong, Roberto Coury Pedrosa, Débora Foguel   +9 more
doaj   +1 more source

Charcot-Marie-Tooth disease and other inherited neuropathies

, 2014
Inherited peripheral neuropathies are among the most common genetic neuromuscular disorders worldwide. However, their diagnosis can be challenging due to genotypic and phenotypic variability.
Saporta, Mario A
core   +1 more source

Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin

Revista de la Facultad de Ciencias Médicas de Córdoba
Introduction: The most common form of hereditary amyloidosis is associated with variants of transthyretin (TTR). Familial amyloidosis polyneuropathy associated with variants of TTR (FAP-TTR) is an infrequent, multisystemic disease, with predominant ...
Eugenia Conti, Sebastián Menazzi, Ana Mariel Finkelsteyn, María de Lourdes Figuerola   +3 more
doaj   +1 more source

Coagulation and fibrinolysis abnormalities in familial amyloid polyneuropathy

, 2012
Objective: Familial amyloid polyneuropathy (FAP) is an autosomal dominant form of hereditary amyloidosis. Several studies reported coagulation factor X deficiency and excessive fibrinolysis in immunoglobulin light chain amyloidosis.
10345613, Sakai, Kenji, Ono, Kenjiro, Yamada, Masahito, Asakura, Hidesaku, 60192936, 451, 210, 00572306, 45303, 70377381, 80191336, 45305, 45304, Noto, Daisuke, Ikeda, Tokuhei, 23554, 45307, 260, Takahashi, Ryoichi, Akagi, Akio, 45306, 468, Nozaki, Ichiro, Iwasa, Kazuo   +24 more
core   +1 more source

Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).

, 2007
International audienceTransthyretin familial amyloid polyneuropathies (TTR-FAPs) are autosomal dominant neuropathies of fatal outcome within 10 years after inaugural symptoms.
Planté-Bordeneuve, Violaine, Adams, David, Said, Gérard, Ferreira, A., Zaros, Cécile, Lalu, T., Lacroix, Catherine   +6 more
core   +1 more source

Characterization of Patients with Hereditary Transthyretin Amyloid Polyneuropathy Using Quantitative Sensory Testing at an Electrophysiological Research Center in Bogotá

, 2023
ilustracionesCaracterización de Pacientes con Polineuropatía Amiloidótica Hereditaria por Transtiretina, Usando la Prueba Cuantitativa Sensitiva en un Centro de Investigación Electrofisiológica en la Ciudad de Bogotá Introducción: La amiloidosis ...
Lasso Benavides, Jairo Fernando
core   +1 more source

Variable presentations of TTR familial amyloid polyneuropathy in seventeen patients.

, 2011
Autosomal-dominant transthyretin (TTR)-related amyloidosis usually manifests in the second to fourth decade with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure.
FERRARI S, Ilaria Cabrini, CAPPELLARI M, MERLINI G, FABRIZI, Gian Maria, TAIOLI, Federica, Cappellari, Manuel, TAIOLI F, Federica Taioli, Manuel Cappellari, Briani C., Cappellari M., Chiara Briani, Merlini G., CABRINI, Ilaria, Obici, Laura, CAVALLARO T, Moreno Ferrarini, Obici L., FERRARINI M, MERLINI, GIAMPAOLO, Tiziana Cavallaro, Giampaolo Merlini, Gian Maria Fabrizi, BRIANI, CHIARA, Laura Obici, FABRIZI GM, FERRARINI, Moreno, Sergio Ferrari, CAVALLARO, Tiziana, CABRINI I, FERRARI, Sergio   +31 more
core   +1 more source