Systemic amyloidosis from A (AA) to T (ATTR): a review

E Muchtar, A Dispenzieri, H Magen… - Journal of internal …, 2021 - Wiley Online Library
Systemic amyloidosis is a rare protein misfolding and deposition disorder leading to
progressive organ failure. There are over 15 types of systemic amyloidosis, each caused by …

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 …

Cryo-EM structure of an ATTRwt amyloid fibril from systemic non-hereditary transthyretin amyloidosis

M Steinebrei, J Gottwald, J Baur, C Röcken… - Nature …, 2022 - nature.com
Wild type transthyretin-derived amyloid (ATTRwt) is the major component of non-hereditary
transthyretin amyloidosis. Its accumulation in the heart of elderly patients is life threatening …

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 …

Common transthyretin-derived amyloid fibril structures in patients with hereditary ATTR amyloidosis

M Steinebrei, J Baur, A Pradhan, N Kupfer… - Nature …, 2023 - nature.com
Systemic ATTR amyloidosis is an increasingly important protein misfolding disease that is
provoked by the formation of amyloid fibrils from transthyretin protein. The pathological and …

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

A Carroll, PJ Dyck, M de Carvalho… - Journal of Neurology …, 2022 - jnnp.bmj.com
Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant
inherited systemic disease predominantly affecting the peripheral and autonomic nervous …

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations

DM Rowczenio, I Noor, JD Gillmore… - Human …, 2014 - Wiley Online Library
Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in
an autosomal dominant fashion. It is associated with mutations in genes encoding eight …

Transthyretin amyloidosis: update on the clinical spectrum, pathogenesis, and disease-modifying therapies

H Koike, M Katsuno - Neurology and therapy, 2020 - Springer
ATTR amyloidosis is caused by systemic deposition of transthyretin (TTR) and comprises
ATTRwt (wt for wild-type) amyloidosis, ATTRv (v for variant) amyloidosis, and acquired ATTR …

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 …

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

H Koike, F Tanaka, R Hashimoto, M Tomita… - Journal of Neurology …, 2012 - jnnp.bmj.com
Objective The objective of this study was to elucidate the natural history of late-onset
transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) in …