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Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease, [1] is an autosomal dominant [2] neurodegenerative disease. It is a form of amyloidosis, and was first identified and described by Portuguese neurologist ...
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation. [1] [2] [3]
TTR misfolding and aggregation is known to be associated with amyloid diseases [13] including wild-type transthyretin amyloidosis, [14] hereditary transthyretin amyloidosis, [15] familial amyloid polyneuropathy (FAP), [16] [17] and familial amyloid cardiomyopathy (FAC). [18] TTR tetramer dissociation is known to be rate-limiting for amyloid ...
Eplontersen, sold under the brand name Wainua, is a medication used for the treatment of transthyretin-mediated amyloidosis. [3] It is a transthyretin-directed antisense oligonucleotide. [3] It was developed to treat hereditary transthyretin amyloidosis by Ionis Pharmaceuticals and AstraZeneca. [4] [5] [6] [7]
Amyloidosis is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. [4] There are several non-specific and vague signs and symptoms associated with amyloidosis. [ 5 ]
Tafamidis, sold under the brand names Vyndaqel and Vyndamax, [5] is a medication used to delay disease progression in adults with certain forms of transthyretin amyloidosis. It can be used to treat both hereditary forms, familial amyloid cardiomyopathy and familial amyloid polyneuropathy , as well as wild-type transthyretin amyloidosis , which ...
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