Document Detail


A Swedish family with the rare Phe33Leu transthyretin mutation.
MedLine Citation:
PMID:  16194875     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Familial amyloidotic polyneuropathy (FAP) designates TTR mutations where the phenotype is dominated by a peripheral sensory-motor polyneuropathy. The most common mutation is ATTR Val30Met. FAP in association with ATTR Phe33Leu has been described previously in two American families, one of Polish-Lithuanian descent and the other of Polish-American. In this study, we report the phenotype of the ATTR Phe33Leu in a Swedish family. The proband is a 48 year-old patient from northern Sweden, whose father died with symptoms suggestive of FAP. Characteristic clinical features included polyneuropathy, carpal tunnel syndrome and asymptomatic, but echocardiographic examination diagnosed cardiomyopathy. The family history supports an early intervention with orthotopic liver transplantation in patients with FAP associated with the TTR Phe33Leu, and the patient was submitted for liver transplantation.
Authors:
Gösta Holmgren; Urban Hellman; Jenni Jonasson; Hans-Eric Lundgren; Per Westermark; Ole B Suhr
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis     Volume:  12     ISSN:  1350-6129     ISO Abbreviation:  Amyloid     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-09-30     Completed Date:  2008-03-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433802     Medline TA:  Amyloid     Country:  United States    
Other Details:
Languages:  eng     Pagination:  189-92     Citation Subset:  IM    
Affiliation:
Department of Medical and Clinical Genetics/Medical Bioscience, Umeå University Hospital, Sweden. gosta.holmgren@medbio.umu.se
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MeSH Terms
Descriptor/Qualifier:
Amyloid Neuropathies, Familial / genetics
Carpal Tunnel Syndrome / genetics
Female
Humans
Leucine / genetics*
Male
Middle Aged
Mutation*
Pedigree
Phenotype
Phenylalanine / genetics*
Prealbumin / genetics*
Sweden
Chemical
Reg. No./Substance:
0/Prealbumin; 61-90-5/Leucine; 63-91-2/Phenylalanine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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