title: First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutation.
abstract: 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.
authors: National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH Hospitals Trust, Queen Square, London, United Kingdom.
authors: Thomas E F
authors: TE
authors: Webb
authors: Suvankar
authors: S
authors: Pal
authors: Durrenajaf
authors: D
authors: Siddique
authors: Dominic C
authors: DC
authors: Heaney
authors: Jacqueline M
authors: JM
authors: Linehan
authors: Jonathan D F
authors: JD
authors: Wadsworth
authors: Susan
authors: S
authors: Joiner
authors: Jon
authors: J
authors: Beck
authors: Stephen J
authors: SJ
authors: Wroe
authors: Valerie
authors: V
authors: Stevenson
authors: Sebastian
authors: S
authors: Brandner
authors: Simon
authors: S
authors: Mead
authors: John
authors: J
authors: Collinge
mesh_terms: 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
chemical_list: C512656:PRNP protein, human; D018620:PrPSc Proteins; D000072002:Prion Proteins; D011328:Prions