Abstract:
:A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletion has not been observed in large, population-based studies, the two cases suggest that this deletion is a new pathogenic mutation associated with CJD.
journal_name
Neurologyjournal_title
Neurologyauthors
Capellari S,Parchi P,Wolff BD,Campbell J,Atkinson R,Posey DM,Petersen RB,Gambetti Pdoi
10.1212/01.wnl.0000035533.86833.28subject
Has Abstractpub_date
2002-11-26 00:00:00pages
1628-30issue
10eissn
0028-3878issn
1526-632Xjournal_volume
59pub_type
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