Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
Arg47 is a rare transthyretin-related (TTR) amyloidosis variant that is characterised by polyneuropathy and autonomic failure. We describe an Italian family with this mutation whose members (two women and their father) showed a rapid progression of the peripheral nervous system involvement and died within 5 years of clinical onset. Patients with Arg47 or other aggressive TTR amyloidoses should be considered high priority patients for orthotopic liver transplantation.
Department of Neurological Sciences, University of Bologna at Bellaria Hospital, Bologna, Italy. fabrizio.salvi@ausl.bo.it
F
F
Salvi
F
F
Pastorelli
R
R
Plasmati
A
A
Ferlini
G L
GL
Grazi
E
E
Jovine
M
M
Mascalchi
C A
CA
Tassinari
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D028226:Amyloidosis, Familial / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin; D001120:Arginine