title: An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.
abstract: We describe two Italian first cousins with familial amyloidotic polyneuropathy 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 dysfunction and the 44-year-old cousin with congestive heart failure. Both developed sensorimotor and autonomic polyneuropathy. Since a similar clinical picture 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.
authors.affiliation: Department of Neurological Sciences and Rehabilitation, University of Genoa, Italy. csolaro@tn.village.it
authors.forename: C
authors.initials: C
authors.lastname: Solaro
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: A
authors.initials: A
authors.lastname: Di Sapio
authors.forename: L
authors.initials: L
authors.lastname: Pradotto
authors.forename: G L
authors.initials: GL
authors.lastname: Mancardi
authors.forename: A
authors.initials: A
authors.lastname: Primavera
authors.forename: A
authors.initials: A
authors.lastname: Mauro
mesh_terms: D000328:Adult; D001483:Base Sequence / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011115:Polyneuropathies / Q000235:genetics* / Q000473:pathology; D011228:Prealbumin / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
chemical_list: D011228:Prealbumin