Document Detail

An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene.
MedLine Citation:
PMID:  16053476     Owner:  NLM     Status:  MEDLINE    
We report a patient with familial amyloid polyneuropathy. Gene analysis revealed a heterozygous Glu54Gly substitution (A-to-G change) in the transthyretin gene. This is the first case of a Glu54Gly substitution that was devoid of a Gly6Ser substitution. Compared with the previously reported case with compound heterozygotes of Glu54Gly and Gly6Ser, the age of onset in our case is much younger and another characteristic findings were the amyloid vasculopathy and the multiple organ involvement. A Glu54Gly mutation is amyloidogenic by itself and a Gly6Ser mutation may offer some protection from the Glu54Gly mutant.
H S Kim; S-M Kim; S-W Kang; S-C Jung; K-S Lee; T-S Kim; Y-C Choi
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of neurology : the official journal of the European Federation of Neurological Societies     Volume:  12     ISSN:  1351-5101     ISO Abbreviation:  Eur. J. Neurol.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-08-01     Completed Date:  2005-10-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9506311     Medline TA:  Eur J Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  657-9     Citation Subset:  IM    
Department of Neurology, College of Medicine, Pochon CHA University, Seoul, South Korea.
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MeSH Terms
Amyloid Neuropathies, Familial / genetics*,  pathology,  physiopathology
DNA Mutational Analysis / methods
Family Health
Glutamic Acid / genetics
Glycine / genetics
Nerve Fibers, Myelinated / pathology
Prealbumin / genetics*
RNA, Messenger / biosynthesis
Reverse Transcriptase Polymerase Chain Reaction / methods
Reg. No./Substance:
0/Prealbumin; 0/RNA, Messenger; 56-40-6/Glycine; 56-86-0/Glutamic Acid

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

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