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. © 2005 Taylor & Francis Group Ltd.