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.

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

PRADOTTO, Luca Guglielmo;MAURO, Alessandro
2000

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.
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SOLARO C; SCHENONE A; DI SAPIO A; PRADOTTO L; MANCARDI GL; PRIMAVERA A; MAURO A
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/36772
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