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 ?
and EU following planned approvals in mid-2018 to treat people with hereditary transthyretin amyloidosis, or hATTR, a systemic, progressive and fatal disease.
Eidos Therapeutics is developing AG10 as a targeted therapeutic for transthyretin amyloidosis.
announced today that it plans to open an expanded access program (EAP) for eligible patients with hereditary transthyretin amyloidosis (hATTR) with polyneuropathy in the coming months.
Diagnosis, prognosis, and therapy of transthyretin amyloidosis.
Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: A case report and literature review.
ISIS-TTRRx is an antisense drug the companies are developing for the treatment of transthyretin amyloidosis, a severe and rare genetic disease characterized by progressive dysfunction of peripheral nerve and/or heart tissues.
The product is an antisense drug aimed at the treatment of transthyretin amyloidosis, a genetic disease characterised by progressive dysfunction of peripheral nerve and/or heart tissues.
October 31, 2013 -- Researchers here have generated the first known disease-specific induced pluripotent stem cell (iPSC) lines from a patient with familial transthyretin amyloidosis (ATTR).
Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.
Pfizer is also the sole sponsor of the Transthyretin Amyloidosis Outcomes Survey (THAOS) (www.
Our Phase 3 clinical study of ISIS-TTRRx in patients with the polyneuropathy form of transthyretin amyloidosis is enrolling well and patients who have completed the controlled portion of the study can continue to receive treatment in our open-label extension study.
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