RGD Reference Report - Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation. - Rat Genome Database

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

Authors: Salvi, F  Pastorelli, F  Plasmati, R  Ferlini, A  Grazi, GL  Jovine, E  Mascalchi, M  Tassinari, CA 
Citation: Salvi F, etal., Neurol Sci. 2005 Jun;26(2):140-2.
RGD ID: 1580526
Pubmed: PMID:15995833   (View Abstract at PubMed)
DOI: DOI:10.1007/s10072-005-0449-y   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Familial Amyloidosis  IAGP 1580526 RGD 
Familial Amyloidosis  ISOTTR (Homo sapiens)1580526; 1580526 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ttr  (transthyretin)

Genes (Mus musculus)
Ttr  (transthyretin)

Genes (Homo sapiens)
TTR  (transthyretin)


Additional Information