An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy

We describe two Italian first cousins with familial amyloidotic polyneuropa thy associated with transthyretin variant consisting of the substitution of alanine for glycine at codon 47 (TTR Ala-47), from a family with a history of cardiac failure. The 40-year-old patient presented with autonomic dysfu nction and the 44-year-old cousin with congestive heart failure. Both devel oped sensorimotor and autonomic polyneuropathy. Since a similar clinical pi cture has been described in another Italian family, the cardiac involvement must be regarded as a salient and early feature of the TTR Ala-47 mutation . (C) 2000 Elsevier Science B.V. All rights reserved.