Familial amyloid polyneuropathy (FAP)

What is this summary about?This is a plain language summary of an article originally published in European Journal of Human Genetics. Transthyretin amyloidosis (…

In the disease familial amyloidosis, Finnish type (FAF), also known as AGel amyloidosis (AGel), the mechanism by which point mutations in the calcium-regulated…

Clinical characteristics. Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy…

The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history…

The amyloid neuropathies are rare, rapidly progressive systemic disorders that often are misdiagnosed when initially presenting as a peripheral neuropathy.1 Light…

The liver has become an increasingly interesting target for oligonucleotide therapy. Mutations of the gene encoding transthyretin (TTR), expressed in vast amounts…

Familial amyloidosis (synonym for familiar amyloid polyneuropathy [FAP]) is an autosomal dominant inherited disease, caused by mutations in the transthyretin (TTR)…

Amyloidosis ATTRv (hATTR) - Hereditary - FAP - FAC is a Facebook group that was created on 7 September 2014.

Although most patients with familial amyloid polyneuropathy (FAP) who undergo liver transplant will require a pacemaker, implanting the device before the transplant…

Amyloidosis is a rare disease caused by abnormal deposition and accumulation of protein in the tissue of the body. Amyloid deposits are primarily made up of protein…