Early onset aggressive hereditary amyloidosis: Report of an Italian family with TTR Arg47 mutation

Fabrizio Salvi; F. Pastorelli; R. Plasmati; A. Ferlini; G. L. Grazi; E. Jovine; M. Mascalchi; C. A. Tassinari

doi:10.1007/s10072-005-0449-y

Early onset aggressive hereditary amyloidosis: Report of an Italian family with TTR Arg47 mutation

Fabrizio Salvi, F. Pastorelli, R. Plasmati, A. Ferlini, G. L. Grazi, E. Jovine, M. Mascalchi, C. A. Tassinari

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	140-142
Number of pages	3
Journal	Neurological Sciences
Volume	26
Issue number	2
DOIs	https://doi.org/10.1007/s10072-005-0449-y
Publication status	Published - Jun 2005

Keywords

Amyloidoses
Polyneuropathy
Transthyretin

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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10.1007/s10072-005-0449-y

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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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AU - Salvi, Fabrizio

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AU - Plasmati, R.

AU - Ferlini, A.

AU - Grazi, G. L.

AU - Jovine, E.

AU - Mascalchi, M.

AU - Tassinari, C. A.

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