Article
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2005
Salvi F, Pastorelli F, Plasmati R, Ferlini A, Grazi G L, Jovine E, Mascalchi M, Tassinari C A
Abstract excerpt
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...
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