Novel screening for transthyretin amyloidosis by using fat ultrasonography
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Neurology"
DOI: 10.1002/ana.24914
Abstract: We aimed to assess the possibility of using a noninvasive screening method for hereditary transthyretin amyloidosis by means of abdominal fat ultrasonography. Quantitative analysis of ultrasound B‐mode images demonstrated a significant increase in mean echogenicity… read more here.
Keywords: novel screening; transthyretin amyloidosis; amyloidosis; hereditary transthyretin ... See more keywords
Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Heart Failure"
DOI: 10.1002/ejhf.2658
Abstract: Transthyretin amyloid cardiomyopathy (ATTR‐CM) is increasingly recognized as a cause of heart failure in the elderly. Although wild‐type transthyretin amyloidosis is the most frequent form of ATTR‐CM found in the elderly, hereditary transthyretin amyloidosis (ATTRv)… read more here.
Keywords: frequency hereditary; amyloidosis among; hereditary transthyretin; transthyretin amyloidosis ... See more keywords
[Gene therapy options for hereditary transthyretin-related amyloidosis].
Sign Up to like & getrecommendations! Published in 2022 at "Der Nervenarzt"
DOI: 10.1007/s00115-022-01288-0
Abstract: Hereditary transthyretin-related amyloidosis (ATTRv) is a rare autosomal dominant disease and is fatal if left untreated. It is caused by mutations in the transthyretin gene. All known mutations induce misfolding of the tetrameric transthyretin molecule and… read more here.
Keywords: treatment; transthyretin related; hereditary transthyretin; gene ... See more keywords
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature
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DOI: 10.1007/s00415-020-09962-6
Abstract: Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR v ) in the TTR gene. Alongside cardiac dysfunction, the disease typically manifests with a severely progressive sensorimotor and autonomic polyneuropathy. Three different drugs, tafamidis, patisiran,… read more here.
Keywords: recommendations diagnostic; transthyretin amyloidosis; diagnostic therapeutic; amyloidosis ... See more keywords
Impact of Patisiran, an RNAi Therapeutic, on Orthostatic Intolerance in Patients with Hereditary Transthyretin-Mediated Amyloidosis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cardiac Failure"
DOI: 10.1016/j.cardfail.2019.07.222
Abstract: Hereditary transthyretin-mediated (hATTR) amyloidosis is a rapidly progressive, multisystem disease which can impact numerous organs, including peripheral and autonomic nerves and heart. Orthostatic intolerance (OI), caused by amyloid deposition in the autonomic nervous system, is… read more here.
Keywords: impact; hereditary transthyretin; transthyretin mediated; hattr amyloidosis ... See more keywords
Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101940
Abstract: Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant rare disease caused by heterozygous mutations in the TTR gene, which encodes depolymerized transthyretin deposited in several organs. An induced pluripotent stem cell (iPSC) line of ATTR… read more here.
Keywords: line; transthyretin amyloidosis; stem cell; hereditary transthyretin ... See more keywords
LONG-TERM, INTEGRATED CARDIAC SAFETY OF PATISIRAN IN PATIENTS WITH HEREDITARY TRANSTHYRETIN-MEDIATED AMYLOIDOSIS WITH POLYNEUROPATHY
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(20)31317-6
Abstract: Hereditary transthyretin-mediated (hATTR) amyloidosis is a progressive, life-threatening disease. The majority of patients develop a mixed phenotype of polyneuropathy and cardiomyopathy. Patisiran is approved in certain countries globally for the treatment of hATTR amyloidosis with… read more here.
Keywords: transthyretin mediated; amyloidosis polyneuropathy; amyloidosis; hereditary transthyretin ... See more keywords
Data-independent acquisition mass spectrometry reveals comprehensive plasma protein profiles in the natural history of patients with hereditary transthyretin amyloidosis (ATTRv)
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DOI: 10.1080/14789450.2023.2195096
Abstract: ABSTRACT Objectives Hereditary transthyretin amyloidosis (ATTRv) is a rare, fatal, autosomal dominant disease with more than 140 mutations discovered. Three phenotypes of amyloid infiltration are neuropathy (ATTRv-PN), cardiopathy (ATTRv-CM), and neuropathy + cardiopathy (ATTRv-MIX). The… read more here.
Keywords: attrv; data independent; amyloidosis attrv; hereditary transthyretin ... See more keywords
Inotersen for the treatment of adults with polyneuropathy caused by hereditary transthyretin-mediated amyloidosis
Sign Up to like & getrecommendations! Published in 2019 at "Expert Review of Clinical Pharmacology"
DOI: 10.1080/17512433.2019.1635008
Abstract: ABSTRACT Introduction: Hereditary transthyretin-mediated amyloidosis (ATTRv; v for variant) is an underdiagnosed, progressive, and fatal multisystemic disease with a heterogenous clinical phenotype that is caused by TTR gene mutations that destabilize the TTR protein, resulting… read more here.
Keywords: transthyretin mediated; pharmacology; hereditary transthyretin; mediated amyloidosis ... See more keywords
OCULAR ANGIOGRAPHIC FEATURES IN JAPANESE PATIENTS WITH VAL30MET HEREDITARY TRANSTHYRETIN AMYLOIDOSIS
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DOI: 10.1097/iae.0000000000003291
Abstract: Supplemental Digital Content is Available in the Text. Japanese patients with Val30Met hereditary transthyretin amyloidosis show somewhat different frequencies of retinal amyloid angiopathy from previous reports in other regions and may show different frequencies of… read more here.
Keywords: severity; amyloid angiopathy; amyloid; hereditary transthyretin ... See more keywords
Supporting the Assessment of Hereditary Transthyretin Amyloidosis Patients Based On 3-D Gait Analysis and Machine Learning
Sign Up to like & getrecommendations! Published in 2021 at "IEEE Transactions on Neural Systems and Rehabilitation Engineering"
DOI: 10.1109/tnsre.2021.3096433
Abstract: Hereditary Transthyretin Amyloidosis (vATTR-V30M) is a rare and highly incapacitating sensorimotor neuropathy caused by an inherited mutation (Val30Met), which typically affects gait, among other symptoms. In this context, we investigated the possibility of using machine… read more here.
Keywords: transthyretin amyloidosis; machine learning; based gait; hereditary transthyretin ... See more keywords