Creutzfeldt–Jakob disease with homozygous M232R mutation: A case report

[1]  T. Kitamoto,et al.  An autopsied case of Creutzfeldt‐Jakob disease with mutation in the prion protein gene codon 232 and type 1+2 prion protein , 2013, Neuropathology : official journal of the Japanese Society of Neuropathology.

[2]  S. Mead,et al.  Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation. , 2012, Brain : a journal of neurology.

[3]  R. Henry,et al.  Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias , 2011, Neurology.

[4]  Y. Kuroiwa,et al.  Prospective 10-year surveillance of human prion diseases in Japan. , 2010, Brain : a journal of neurology.

[5]  Y. Itoyama,et al.  Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution , 2007, Journal of Neurology.

[6]  S. Mead,et al.  Prion disease genetics , 2006, European Journal of Human Genetics.

[7]  A. Patchefsky,et al.  Case report 3 , 1976, Skeletal Radiology.

[8]  K. Sakai,et al.  A patient with dementia with Lewy bodies and codon 232 mutation of PRNP , 2002, Neurology.

[9]  M. Hoque,et al.  Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study , 1996, Acta Neuropathologica.

[10]  Jonathan O. Harris,et al.  Creutzfeldt‐Jakob disease: Patterns of worldwide occurrence and the significance of familial and sporadic clustering , 1979, Annals of neurology.