Rare disease
Creutzfeldt–Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP
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 Department of Neurology, Beijing Friendship Hospital, Beijing, China
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 Department of Neurology, Beijing Friendship Hospital, Beijing, China
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 Department of Neurology, Beijing Friendship Hospital, Beijing, China
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
Correspondence to:
X P Dong, dongxp238{at}hotmail.com
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.
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