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.
Salvi
F
F
Department of Neurological Sciences, University of Bologna at Bellaria Hospital, Bologna, Italy. fabrizio.salvi@ausl.bo.it
Pastorelli
F
F
Plasmati
R
R
Ferlini
A
A
Grazi
G L
GL
Jovine
E
E
Mascalchi
M
M
Tassinari
C A
CA
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