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Rare disease
Creutzfeldt–Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP
  1. X F Wang1,
  2. Y J Guo2,
  3. B Y Zhang3,
  4. W Q Zhao4,
  5. J M Gao5,
  6. Y Z Wan5,
  7. F Li5,
  8. J Han5,
  9. D X Wang6,
  10. X P Dong7
  1. 1
    State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Prevention and Control, Chinese Center for Disease Control and Prevention, Beijing, China
  2. 2
    Department of Neurology, Beijing Friendship Hospital, Beijing, China
  3. 3
    State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Prevention and Control, Chinese Center for Disease Control and Prevention, Beijing, China
  4. 4
    Department of Neurology, Beijing Friendship Hospital, Beijing, China
  5. 5
    State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Prevention and Control, Chinese Center for Disease Control and Prevention, Beijing, China
  6. 6
    Department of Neurology, Beijing Friendship Hospital, Beijing, China
  7. 7
    State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Prevention and Control, Chinese Center for Disease Control and Prevention, Beijing, China
  1. X P Dong, dongxp238{at}hotmail.com

Summary

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.

https://doi.org/10.1136/bcr.06.2009.2002

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    Footnotes

    • Competing interests: none.