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.
Original language | English |
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Pages (from-to) | 1628-1630 |
Number of pages | 3 |
Journal | Neurology |
Volume | 59 |
Issue number | 10 |
DOIs | |
State | Published - Nov 26 2002 |