Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP)
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, autosomal dominant, adult-onset neurodegenerative disease caused by mutations in the TTR (transthyretin) gene. The disease is characterized by progressive peripheral and autonomic neuropathy due to extracellular deposition of amyloid fibrils derived from misfolded TTR proteins. TTR-FAP is a form of hereditary transthyretin amyloidosis (hATTR), typically involving the