First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutation.
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.
Webb
Thomas E F
TE
National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH Hospitals Trust, Queen Square, London, United Kingdom.
Pal
Suvankar
S
Siddique
Durrenajaf
D
Heaney
Dominic C
DC
Linehan
Jacqueline M
JM
Wadsworth
Jonathan D F
JD
Joiner
Susan
S
Beck
Jon
J
Wroe
Stephen J
SJ
Stevenson
Valerie
V
Brandner
Sebastian
S
Mead
Simon
S
Collinge
John
J
D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D018620:PrPSc Proteins / Q000378:metabolism; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D035781:Siblings
C512656:PRNP protein, human; D018620:PrPSc Proteins; D000072002:Prion Proteins; D011328:Prions