familial amyloid polyneuropathy
- familial amyloid polyneuropathy
- autosomal dominant amyloid polyneuropathy, associated with hereditary amyloidosis (q.v.) and involving deposition of amyloid in some combination of the peripheral and autonomic nerves, heart, kidney, and other organs; it was subclassified on the basis of affected kinships, which were found to be associated with specific mutations, but now is usually subclassified on the basis of symptoms and the biochemical composition of the affected fibrils. It most commonly involves one of a variety of point mutations of the TTR gene, which encodes transthyretin (see ATTR amyloidosis, under amyloidosis), but can also be associated with mutations affecting other proteins that can form fibrillar aggregates, such as apolipoprotein A-I.
Medical dictionary.
2011.
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