Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case)

Abstract

Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders of the peripheral nervous system and internal organs. One of the rarest mutations of the transthyretin gene is tyrosine substitution for cysteine in position 114 (Tyr114Cys). One of the described characteristics of ATTR is the discordant phenotype in monozygotic twins. We present a case of ATTR Cys 114 in a Russian family with a pair of monozygotic twins discordant for ATTR.

Keywords

• amyloidosis
• transthyretin amyloidosis
• attr cys 114
• familial amyloid polyneuropathy
• monozygotic twins
• discordance
• nongenetic factors