Clinical features of TTR-FAP in Portugal

Abstract excerpt

Familial amyloid polyneuropathy (FAP) is an autosomal dominant disorder characterized by the extracellular deposition of transthyretin (TTR) fibrils in several tissues, particularly in the peripheral nervous system. The largest focus of the disease is in Portugal where the age of disease onset shows a wide range (17-78 years), with 80% of cases developing symptoms before age 40. The characteristic fiber...

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