Results 1 to 10 of about 2,353 (157)

40 years of CEPARM: transforming amyloidosis related to transthyretin from neglect to recognition [PDF]

Arquivos de Neuro-Psiquiatria
Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTRv-CM), formerly known as familial amyloidotic polyneuropathy (FAP), is a severe, progressive disorder caused by mutations in the transthyretin (TTR) gene ...
Marcia Waddington Cruz, Marleide da Mota Gomes   +1 more
doaj   +2 more sources

Diagnostic pathway for cardiac amyloidosis from the healthcare professional’s perspective: results from the French DIAM-ATTR survey [PDF]

Annals of Medicine
Background Diagnosis of cardiac amyloidosis (CA) is complex and implicates several medical specialists. CA is usually suspected based on symptoms (‘red flags’) and non-invasive imagery.
Silvia Oghina, Damien Legallois, Fabien Hyafil, Walid Amara, Emmanuel Andrès, Thomas Bardin, Pauline Fournier, Sandra Guignard, Céline Labeyrie, Nicolas Piriou, Olivier Toulza, Romain Tresorier, Giorgia Canali, Margaux Dubois, Benoit Bouquillon, Cédric Sauvage, Pierre Sabouret, Philippe Charron, Thibaud Damy   +18 more
doaj   +2 more sources

Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center

Arquivos de Neuro-Psiquiatria, 2021
Background: Hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy is a rare, inherited, multisystem, and often fatal disease caused by a variant in transthyretin (TTR) gene.
Vanessa Cristina Cunha Sequeira, Maria Alice Penetra, Lisa Duarte, Fernanda Reis de Azevedo, Raphael Santa Rosa Sayegh, Roberto Coury Pedrosa, Márcia Waddington Cruz   +6 more
doaj   +1 more source

Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy [PDF]

Neurology Genetics, 2015
Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS).We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy.Both patients were confirmed to have ...
Goyal, Namita A., Mozaffar, Tahseen
openaire   +5 more sources

Pharmacological treatment for familial amyloid neuropathy [PDF]

Cochrane Database of Systematic Reviews, 2016
This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess and compare the efficacy, acceptability, and tolerability of pharmacologic disease-modifying agents for familial amyloid neuropathy (FAP).
Magrinelli, Francesca, FABRIZI, Gian Maria, Santoro, L., Manganelli, F., CAVALLARO, Tiziana, Zanette, G, TAMBURIN, Stefano   +6 more
openaire   +2 more sources

Amyloid Proteins and Peripheral Neuropathy

Cells, 2020
Painful peripheral neuropathy affects millions of people worldwide. Peripheral neuropathy develops in patients with various diseases, including rare familial or acquired amyloid polyneuropathies, as well as some common diseases, including type 2 diabetes
Mohammed M. H. Albariqi, Sjoukje Engelsman, Niels Eijkelkamp, Jo W. M. Höppener   +3 more
doaj   +1 more source

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

Arquivos de Neuro-Psiquiatria, 2023
Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene.
Marcus Vinicius Pinto, Marcondes Cavalcante França, Marcus Vinicius Magno Gonçalves, Marcela Câmara Machado-Costa, Marcos Raimundo Gomes de Freitas, Francisco de Assis Aquino Gondim, Carlo Domenico Marrone, Alberto Rolim Muro Martinez, Carolina Lavigne Moreira, Osvaldo J. M. Nascimento, Anna Paula Paranhos Covaleski, Acary Souza Bulle de Oliveira, Camila Castelo Branco Pupe, Marcia Maria Jardim Rodrigues, Francisco Tellechea Rotta, Rosana Herminia Scola, Wilson Marques, Márcia Waddington-Cruz   +17 more
doaj   +1 more source

Novel Transthyretin Gene Mutation in Familial Amyloid Neuropathy in India

Annals of African Medicine, 2022
Familial amyloid polyneuropathy (PN), also known as amyloid transthyretin (TTR)-PN is an autosomal dominant adult-onset fatal disease, if not treated. It occurs due to mutations in (TTR) gene which leads to a faulty TTR protein which folds up to form amyloid and gets deposited mainly on nerves and causes length-dependent PN ...
Rohatgi, Shalesh, Nirhale, Satish, Manohar, Poonkodi, Rao, Prajwal, Naphade, Pravin, Khan, Furqan Mohd. Akram, Dave, Dhaval, Sravya Kotaru, V.V., Gupta, Sahil, Gitay, Advait, Dubey, Prashant   +10 more
openaire   +2 more sources

Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy

Frontiers in Neurology, 2021
Backgrounds: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is frequently misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP) because of similar phenotypes in the two diseases. This study was intended to identify the role of
Kang Du, Ke Xu, Si Cheng, Si Cheng, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Lingchao Meng   +8 more
doaj   +1 more source

Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression

Orphanet Journal of Rare Diseases, 2021
Background Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, leading to disability and death. The
David Adams, Vincent Algalarrondo, Michael Polydefkis, Nitasha Sarswat, Michel S. Slama, Jose Nativi-Nicolau   +5 more
doaj   +1 more source