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An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene

Authors
 H. S. Kim  ;  S.-M. Kim  ;  S.-W. Kang  ;  S.-C. Jung  ;  K.-S. Lee  ;  T.-S. Kim  ;  Y.-C. Choi 
Citation
 EUROPEAN JOURNAL OF NEUROLOGY, Vol.12(8) : 657-659, 2005 
Journal Title
 EUROPEAN JOURNAL OF NEUROLOGY 
ISSN
 1351-5101 
Issue Date
2005
MeSH
Amyloid Neuropathies, Familial/genetics* ; Amyloid Neuropathies, Familial/pathology ; Amyloid Neuropathies, Familial/physiopathology ; DNA Mutational Analysis/methods ; Family Health ; Female ; Glutamic Acid/genetics ; Glycine/genetics ; Humans ; Male ; Mutation* ; Nerve Fibers, Myelinated/pathology ; Prealbumin/genetics* ; RNA, Messenger/biosynthesis ; Reverse Transcriptase Polymerase Chain Reaction/methods
Keywords
aggressive form ; familial amyloid polyneuropathy ; Glu54Gly ; protective effect ; transthyretin gene mutation
Abstract
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.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/j.1468-1331.2005.01005.x/abstract
DOI
10.1111/j.1468-1331.2005.01005.x
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seong Woong(강성웅) ORCID logo https://orcid.org/0000-0002-7279-3893
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Kim, Tai Seung(김태승)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/147655
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