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Intra-familial variability of oculoleptomeningeal amyloidosis due to the ATTR I107M (c.381T > G) mutation: diagnostic challenges of a rare phenotype.
Amyloid
March 2024
Department of Medicine, Division of Neurology, University of Toronto, Toronto, Canada.
A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis.
Ther Adv Neurol Disord
August 2023
Department of Internal Medicine, Son Llàtzer University Hospital, Palma de Mallorca, Spain.
Orthotopic liver transplantation (OLT) was the first treatment able to modify the natural course of hereditary transthyretin (ATTRv) amyloidosis, which is a rare and fatal disorder caused by the accumulation of misfolded transthyretin (TTR) variants in different organs and tissues and which leads to a progressive and multisystem dysfunction. Because the liver is the main source of TTR, OLT dramatically reduces the production of the pathogenic TTR variant, which should prevent amyloid formation and halt disease progression. However, amyloidosis progression may occur after OLT due to wild-type TTR deposition, especially in the nerves and heart.
View Article and Find Full Text PDFInotersen to Treat Polyneuropathy Associated with Hereditary Transthyretin (hATTR) Amyloidosis.
Health Psychol Res
January 2023
University of Central Florida College of Medicine, Orlando, FL and HCA Osceola Hospital, Kissimmee, FL.
Background: Amyloidosis is a group of diseases with the common pathophysiology of protein misfolding and aberrant deposition in tissue. There are both acquired and hereditary forms of this disease, and this review focuses on the latter hereditary transthyretin-mediated (hATTR). hATTR affects about 50,000 individuals globally and mostly appears as one of three syndromes - cardiac, polyneuropathy, and oculoleptomeningeal.
View Article and Find Full Text PDFCNS Involvement in Hereditary Transthyretin Amyloidosis.
Neurology
December 2021
From the Instituto de Ciências Biomédicas Abel Salazar (L.S., R.T.), Universidade do Porto; Neurology Department (L.S.), Centro Hospitalar de Entre Douro e Vouga, Santa Maria da Feira; and Unidade Corino de Andrade (T.C.) and Portuguese Brain Bank, Neuropathology Unit (R.T.), Centro Hospitalar Universitário do Porto, Portugal.
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is predominantly a disease of the peripheral nerves, heart, kidney, and eye. CNS involvement has been a marginal issue in research and the clinical setting until recently. Growing evidence shows that leptomeningeal amyloid accumulation is frequent and present from early stages of ATTRv amyloidosis.
View Article and Find Full Text PDFTransthyretin Amyloidosis: Update on the Clinical Spectrum, Pathogenesis, and Disease-Modifying Therapies.
Neurol Ther
December 2020
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
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 amyloidosis after domino liver transplantation. ATTRwt amyloidosis has classically been regarded as cardiomyopathy found in the elderly, whereas carpal tunnel syndrome has also become a major initial manifestation. The phenotypes of ATTRv amyloidosis are diverse and include neuropathy, cardiomyopathy, and oculoleptomeningeal involvement as the predominant features, depending on the mutation and age of onset.
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