论文信息 - Creutzfeldt–Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP

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

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.

[1] J. Houwing-Duistermaat,et al. Octapeptide repeat insertions in the prion protein gene and early onset dementia , 2004, Journal of Neurology, Neurosurgery & Psychiatry.

[2] C. Masters,et al. Novel prion protein insert mutation associated with prolonged neurodegenerative illness , 2003, Neurology.

[3] D. Goldgaber,et al. Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. , 1991, Proceedings of the National Academy of Sciences of the United States of America.