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J Neuropathol Exp Neurol. 2008 Sep;67(9):838-41. doi: 10.1097/NEN.0b013e318182f36e.

First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutation.

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National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH Hospitals Trust, Queen Square, London, United Kingdom.


Sibling concurrence of pathologically confirmed prion disease has only been reported in association with pathogenic mutation of the prion protein gene (PRNP). Here, we report 2 siblings with classic neuropathologic features of sporadic Creutzfeldt-Jakob disease unexplained by PRNP mutation or known risk factors for iatrogenic transmission of prion infection. Possible explanations include coincidental occurrence, common exposure to an unidentified environmental source of prions, horizontal transmission of disease, or the presence of unknown shared genetic predisposition.

[Indexed for MEDLINE]

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