An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.
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.
Solaro
C
C
Department of Neurological Sciences and Rehabilitation, University of Genoa, Italy. csolaro@tn.village.it
Schenone
A
A
Di Sapio
A
A
Pradotto
L
L
Mancardi
G L
GL
Primavera
A
A
Mauro
A
A
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
D011228:Prealbumin