Abstract
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.
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Salvi, F., Pastorelli, F., Plasmati, R. et al. Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. Neurol Sci 26, 140–142 (2005). https://doi.org/10.1007/s10072-005-0449-y
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DOI: https://doi.org/10.1007/s10072-005-0449-y