Pathologically and genetically diagnosed familial amyloid polyneuropathy

Familial amyloid polyneuropathy (FAP) is an autosomal dominantly inherited disorder, in which transthyretin (TTR) is the most frequent causative gene. TTR-related FAP has been mainly reported in Portugal, Japan, Sweden, and only a few families have been diagnosed in Korea so far. Herein, we report another family with FAP in Korea. A 47-year-old man presented with 3-year history of numbness in distal extremities and orthostatic dizziness....