Literature DB >> 21772923

Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP.

X F Wang1, Y J Guo, B Y Zhang, W Q Zhao, J M Gao, Y Z Wan, F Li, J Han, D X Wang, X P Dong.   

Abstract

Familial transmissible spongiform encephalopathies comprise about 14% of all cases of transmissible spongiform encephalopathy in humans. We report on a patient with a definite diagnosis of familial Creutzfeldt-Jakob disease with an insertional mutation consisting of seven extra octapeptide repeats between codons 51 and 91 in the PRNP gene, associated with a genotype homozygotic for methionine at codon 129 and a novel coding change of the inserted octapeptide region.

Entities:  

Year:  2009        PMID： 21772923      PMCID： PMC3029117          DOI： 10.1136/bcr.06.2009.2002

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  3 in total

1.  Octapeptide repeat insertions in the prion protein gene and early onset dementia.

Authors:  E A Croes; J Theuns; J J Houwing-Duistermaat; B Dermaut; K Sleegers; G Roks; M Van den Broeck; B van Harten; J C van Swieten; M Cruts; C Van Broeckhoven; C M van Duijn
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-08       Impact factor: 10.154

2.  Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

Authors:  L G Goldfarb; P Brown; W R McCombie; D Goldgaber; G D Swergold; P R Wills; L Cervenakova; H Baron; C J Gibbs; D C Gajdusek
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

3.  Novel prion protein insert mutation associated with prolonged neurodegenerative illness.

Authors:  V Lewis; S Collins; A F Hill; A Boyd; C A McLean; M Smith; C L Masters
Journal:  Neurology       Date:  2003-05-27       Impact factor: 9.910
  3 in total

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