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

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.

DOI: 10.1136/bcr.06.2009.2002
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@article{Wang2007CreutzfeldtJakobDI, title={Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP.}, author={X Wang and Y Guo and Bao Zhang and Wen Qiu Zhao and Jian Gao and Yu-yao Wan and F. Li and Jin Soo Han and D Wang and X. P. Dong}, journal={Journal of neurology, neurosurgery, and psychiatry}, year={2007}, volume={78 2}, pages={201-3} }