amyloidosis, transthyretin-related

(redirected from transthyretin amyloidosis)

amyloidosis, transthyretin-related

A hereditary form of generalised amyloidosis (OMIM:105210) caused by transthyretin (amyloid) deposition, leading to amyloid polyneuropathy, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis, and leptomeningeal amyloidosis with amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial region. Some patients also develop vitreous amyloid deposition, leading to visual impairment (oculoleptomeningeal amyloidosis).

Clinical features
Seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humour.

Molecular pathology
Defects of TTR, which encodes transthyretin, cause various forms of transthyretin-related amyloidosis.
References in periodicals archive ?
Rx], which is in Phase 3 development for patients with transthyretin amyloidosis.
ISIS-TTR is an antisense drug planned for the treatment of transthyretin amyloidosis, a genetic disease characterized by progressive dysfunction of peripheral nerve and/or heart tissues.
An extensive workup, including colonoscopy and gastrointestinal biopsy, led to a diagnosis of familial transthyretin amyloidosis (Appalachian variant).
Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.
Rx] is an antisense drug Isis is developing with GSK for the treatment of transthyretin amyloidosis, a severe and rare genetic disease characterized by progressive dysfunction of peripheral nerve and/or heart tissues.
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing.
Rx] is an antisense drug in development with GSK for the treatment of transthyretin amyloidosis, a severe and rare genetic disease characterized by progressive dysfunction of peripheral nerve and/or heart tissues.
a presentation titled "Phase I safety, pharmacokinetic and pharmacodynamics results for ALN-TTR01, a novel RNAi therapeutic for the treatment of transthyretin amyloidosis," during the Development of essential therapy for FAP session being held on Monday, November 21 from 10:25 a.
We have made demonstrable progress with our RNAi therapeutics efforts for silencing of disease genes expressed in liver, including our programs on transthyretin amyloidosis, severe hypercholesterolemia, and liver cancers currently in clinical trials.
NeuroPhage's recent progress in the understanding of the GAIM mechanism opens up various indications spanning the common diseases Alzheimer's and Parkinson's disease, and also rare ailments such as Huntington's disease and Transthyretin amyloidosis.
Baseline patient data will be described from the Transthyretin Amyloidosis Outcomes Survey (THAOS), a global, ongoing observational patient survey launched by FoldRx in 2008 and designed to characterize disease history, regional differences, and genotypic-phenotypic relationships of ATTR.
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