Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene

Abstract

A 39-year-old man with progressive peripheral neuropathy and autonomic failure showed amyloid deposition on sural nerve biopsy. Direct DNA sequencing of the TTR gene revealed a G to T mutation, causing a Lys to Asn substitution at position 35. This is the first FAP case in Korea which was diagnosed by a DNA test.

• Amyloid
• familial amyloid polyneuropathy
• transthyretin
• DNA test
• peripheral neuropathy

FAP, familial amyloid polyneuropathy; TTR, transthyretin

FAP, familial amyloid polyneuropathy; TTR, transthyretin