Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease

D Adams, H Koike, M Slama, T Coelho - Nature Reviews Neurology, 2019 - nature.com
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis with polyneuropathy (also
known as familial amyloid polyneuropathy) is a condition with adult onset caused by …

Systemic amyloidosis

AD Wechalekar, JD Gillmore, PN Hawkins - The Lancet, 2016 - thelancet.com
Tissue deposition of protein fibrils causes a group of rare diseases called systemic
amyloidoses. This Seminar focuses on changes in their epidemiology, the current approach …

Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis

AV Kristen, S Ajroud-Driss, I Conceição… - Neurodegenerative …, 2019 - Taylor & Francis
Hereditary transthyretin-mediated amyloidosis is a rapidly progressive, heterogeneous
disease caused by the accumulation of misfolded transthyretin protein as amyloid fibrils at …

Guideline of transthyretin-related hereditary amyloidosis for clinicians

Y Ando, T Coelho, JL Berk, MW Cruz… - Orphanet journal of rare …, 2013 - Springer
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily
characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given …

Familial amyloid polyneuropathy

V Planté-Bordeneuve, G Said - The Lancet Neurology, 2011 - thelancet.com
Familial amyloid polyneuropathies (FAPs) are a group of life-threatening multisystem
disorders transmitted as an autosomal dominant trait. Nerve lesions are induced by deposits …

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

HH Schmidt, M Waddington‐Cruz… - Muscle & …, 2018 - Wiley Online Library
Introduction: This study sought to estimate the global prevalence of transthyretin familial
amyloid polyneuropathy (ATTR‐FAP). Methods: Prevalence estimates and information …

THAOS–The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis

T Coelho, MS Maurer, OB Suhr - Current medical research and …, 2013 - Taylor & Francis
Background: Transthyretin (TTR) amyloidosis is a rare, life-threatening, systemic, autosomal
dominant condition occurring in adults, with two main forms: hereditary (associated with TTR …

Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and …

Y Parman, D Adams, L Obici, L Galán… - Current opinion in …, 2016 - journals.lww.com
The article aims to disseminate the findings and recommendations from two recent meetings
of the European Network for TTR-FAP (ATTReuNET), a panel comprising representatives …

Cardiac amyloidosis: the great pretender

C Rapezzi, M Lorenzini, S Longhi, A Milandri… - Heart failure …, 2015 - Springer
Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and
disease-related reasons including: fragmented knowledge among different specialties and …

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

LL Mariani, P Lozeron, M Théaudin… - Annals of …, 2015 - Wiley Online Library
Objective To compare the natural history of familial transthyretin amyloid polyneuropathies
(FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical …