Hereditary Transthyretin Amyloidosis: Impact of Classic and New Treatments on Kidney Function

E Meléndrez-Balcázar, K Aranda-Vela… - American Journal of …, 2024 - Elsevier
Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive, and life-threatening
disease caused by misfolded transthyretin (TTR) proteins that aggregate as abnormal …

Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments

Y Sekijima - Journal of Neurology, Neurosurgery & Psychiatry, 2015 - jnnp.bmj.com
Transthyretin (ATTR) amyloidosis is a life-threatening, gain-of-toxic-function disease
characterised by extracellular deposition of amyloid fibrils composed of transthyretin (TTR) …

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with …

MF Dohrn, M Auer-Grumbach, R Baron, F Birklein… - Journal of …, 2021 - Springer
Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR v) in the TTR
gene. Alongside cardiac dysfunction, the disease typically manifests with a severely …

Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis

E Hund - The application of clinical genetics, 2012 - Taylor & Francis
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a fatal clinical disorder
characterized by extracellular deposition of abnormal fibrils derived from misfolded, normally …

Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial

M Waddington-Cruz, EJ Ackermann, M Polydefkis… - Amyloid, 2018 - Taylor & Francis
Abstract Background: Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive
and fatal disease with a range of clinical manifestations. Objective: This study …

[HTML][HTML] Familial amyloidosis: Great progress for an orphan disease

AP Barreiros, G Otto, B Kahlen… - Journal of …, 2015 - journal-of-hepatology.eu
Familial amyloidosis (synonym for familiar amyloid polyneuropathy [FAP]) is an autosomal
dominant inherited disease, caused by mutations in the transthyretin (TTR) gene, coding for …

Renal involvement in transthyretin amyloidosis: the double presentation of transthyretin amyloidosis deposition disease

R Fenoglio, S Baldovino, A Barreca, E Bottasso… - Nephron, 2022 - karger.com
Abstract Transthyretin (TTR) amyloidosis (ATTR) is either an inherited condition or a non
hereditary disease due to misfolding of wild-type (WT) TTR. Amyloid deposits can be mainly …

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy

L Gentile, A Mazzeo, C Briani, S Casagrande… - Neurological …, 2024 - Springer
Background Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy
is a rare disease caused by mutations in the transthyretin gene. In ATTRv amyloidosis …

Neuromuscular manifestations of wild type transthyretin amyloidosis: a review and single center's experience

SA Živković, D Lacomis, P Soman - Frontiers in Cardiovascular …, 2024 - frontiersin.org
Transthyretin amyloidosis (ATTR) is a condition defined by accumulation of insoluble
transthyretin amyloid deposits in multiple organs, especially in the peripheral nerve and …

Clinical presentation, diagnosis and treatment of TTR amyloidosis

M Kapoor, AM Rossor, M Laura… - Journal of …, 2019 - content.iospress.com
Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in
the transthyretin gene (TTR) being the most common cause of hereditary amyloidosis …