Results 11 to 20 of about 2,353 (157)

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Transthyretin hereditary amyloidosis (ATTRv) clinical variability has been widely reported, not only across countries and variants but also among families and distinct regions within a single nation. One of the principal challenges in disease management is the accurate determination of age of onset (AOO), which is heterogeneous and ...
Maximiano-Alves G, Lavigne-Moreira C, Simões MV, Galvão AJP, Valicelli FH, Coneglian FS, Vegezzi E, Garibaldi PMM, Tomaselli PJ, Cortese A, Marques W.   +10 more
europepmc   +2 more sources

Portuguese-type amyloid neuropathy in an English family [PDF]

Postgraduate Medical Journal, 1980
Abstract A 31-year-old woman thought to be suffering from a psychiatric illness was found to have peripheral and autonomic neuropathy, keratoconjunctivitis sicca and vitreous opacities. Her mother had died 10 years previously, aged 42 years from an undiagnosed illness with similar features.
openaire   +2 more sources

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families [PDF]

Journal of Medical Genetics, 2003
Among the hereditary systemic amyloidosis, transthyretin (TTR) neuropathies (OMIM #176300) are devastating disorders with an autosomal dominant transmission, expressed mainly as a progressive fibre length dependent sensorimotor polyneuropathy and life threatening autonomic dysfunction.1 Initially, the condition was recognised in northern Portugal, in ...
V, Planté-Bordeneuve, J, Carayol, A, Ferreira, D, Adams, F, Clerget-Darpoux, M, Misrahi, G, Said, C, Bonaïti-Pellié   +7 more
openaire   +2 more sources

Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv) [PDF]

Brazilian Journal of Nephrology
Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe autosomal dominant systemic disease. It affects the peripheral and autonomic nervous systems, heart, kidneys, and eyes.
Priscilla Cardim Fernandes, Moises Dias da Silva, Marcia Waddington-Cruz, Carlos Perez Gomes   +3 more
doaj   +1 more source

Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP [PDF]

Orphanet Journal of Rare Diseases, 2015
Background Familial amyloid polyneuropathy (FAP) is a severe hereditary disease, due to production by the liver of a genetic variant transthyretin (TTR) resulting in tissue amyloid deposits. Cardiac involvement is of major prognostic value. Diphosphonate scintigraphy has been proposed as a diagnostic tool for TTR-related cardiac amyloidosis, but there ...
Regaieg, Hamza, De Paola Chequer, Renata, Azzouna, Rana, Algalarrondo, Vincent, Mahida, Besma, Slama, Michel, Le Guludec, Dominique, Rouzet, François   +7 more
openaire   +1 more source

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

Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic [PDF]

Orphanet Journal of Rare Diseases, 2015
Background Hereditary amyloidosis represents approximately 4% of the total cases of amyloidoses. The most frequent familial type is caused by deposition of mutated transthyretin (TTR, prealbumin). So far it has been identified more than 100 mutations in the transthyretin gene and type of causal mutation is also characterized by a clinical picture of ...
Pika, Tomas, Latalova, Pavla, Hulkova, Helena, Flodr, Patrik, Mejzlik, Vladimir, Scudla, Vlastimil   +5 more
openaire   +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

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

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