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Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred

2002; Taylor & Francis; Volume: 9; Issue: 1 Linguagem: Inglês

10.3109/13506120209072443

1744-2818

Elisabetta Pelo, L Da Prato, M Ciaccheri, Gabriele Castelli, F Gori, A. Pizzi, Francesca Torricelli, Gianpiero Marconi,

Protein Kinase Regulation and GTPase Signaling

The most frequent localization of amyloid in transthyretin (TTR) mutations is in the peripheral nerve, causing familial amyloid polyneuropathy (FAP). It is generally accompanied by involvement of other organs such as the myocardium and kidney. To date, over 70 TTR point mutations have been reported in literature, with different phenotypes depending on the location of the mutation in the TTR gene.This paper deals with a point mutation in exon 2 position 47 of the TTR gene, encoding the substitution ofgly-cine with glutamate. The mutation was found in an Italian family with 5 patients over 3 generations. The phenotype was characterised by peripheral neuropathy and autonomic dysfunction, associated in some patients with cardiomyopathy and renal involvement. The symptoms were very severe and the patients did not survive long, thus suggesting the aggressive nature of the pathological process. Moreover, in the succeeding generations of this family, there was genetic anticipation in the age of onset of the disease.