Bibliographic Details
| Title: |
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. |
| Authors: |
Salvi, F., Pastorelli, F., Plasmati, R., Ferlini, A., Grazi, G. L., Jovine, E., Mascalchi, M., Tassinari, C. A. |
| Source: |
Neurological Sciences. Jun2005, Vol. 26 Issue 2, p140-142. 3p. |
| Subjects: |
Amyloidosis, Genetic disorders, Genetic mutation, Neuropathy, Dysautonomia, Peripheral nervous system |
| 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. [ABSTRACT FROM AUTHOR] |
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| Database: |
Psychology and Behavioral Sciences Collection |
