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 …

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 …

Transthyretin familial amyloid polyneuropathy: an update

V Plante-Bordeneuve - Journal of neurology, 2018 - Springer
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited
disorder first identified in Portugal and now recognized in all continents. Over the past …

The neuropathy in hereditary transthyretin amyloidosis: a narrative review

S Tozza, D Severi, E Spina, A Iovino… - Journal of the …, 2021 - Wiley Online Library
Hereditary transthyretin amyloidosis (ATTRv) is a condition with adult onset, caused by
mutation of the transthyretin (TTR) gene and characterized by extracellular deposition of …

Hereditary transthyretin amyloid neuropathies: advances in pathophysiology, biomarkers, and treatment

D Adams, Y Sekijima, I Conceição… - The Lancet …, 2023 - thelancet.com
Hereditary transthyretin (TTR) amyloid polyneuropathy is an autosomal dominant life-
threatening disorder. TTR is produced mainly by the liver but also by the choroid plexus and …

Multidisciplinary approaches for transthyretin amyloidosis

H Koike, T Okumura, T Murohara, M Katsuno - Cardiology and Therapy, 2021 - Springer
Amyloidosis caused by systemic deposition of transthyretin (TTR) is called ATTR
amyloidosis and mainly includes hereditary ATTR (ATTRv) amyloidosis and wild-type ATTR …

Neuropathy associated with systemic amyloidosis

M Kaku, JL Berk - Seminars in Neurology, 2019 - thieme-connect.com
Peripheral neuropathy occurs in the setting of both hereditary and acquired amyloidosis.
The most common form of hereditary amyloidosis is caused by 1 of 140 mutations in the …

Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers

A Salvalaggio, D Coraci, M Cacciavillani, L Obici… - Journal of …, 2021 - Springer
Background Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant)
prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of …

Ultrastructure in transthyretin amyloidosis: from pathophysiology to therapeutic insights

H Koike, M Katsuno - Biomedicines, 2019 - mdpi.com
Transthyretin (TTR) amyloidosis is caused by systemic deposition of wild-type or variant
amyloidogenic TTR (ATTRwt and ATTRv, respectively). ATTRwt amyloidosis has …

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis

M Kapoor, M Foiani, A Heslegrave… - Journal of the …, 2019 - Wiley Online Library
Hereditary transthyretin amyloidosis (ATTRm) causes a disabling peripheral neuropathy as
part of a multisystem disorder. The recent development of highly effective gene silencing …