Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene.

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

Neurology

journal_title

Neurology

authors

Capellari S,Parchi P,Wolff BD,Campbell J,Atkinson R,Posey DM,Petersen RB,Gambetti P

doi

10.1212/01.wnl.0000035533.86833.28

subject

Has Abstract

pub_date

2002-11-26 00:00:00

pages

1628-30

issue

10

eissn

0028-3878

issn

1526-632X

journal_volume

59

pub_type

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