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

被引：28

作者：

Capellari, S

Parchi, P

Wolff, BD

Campbell, J

Atkinson, R

Posey, DM

Petersen, RB

Gambetti, P

机构：

[1] Case Western Reserve Univ, Div Neuropathol, Cleveland, OH 44106 USA

[2] Case Western Reserve Univ, Inst Pathol, Cleveland, OH 44106 USA

[3] Case Western Reserve Univ, Natl Prion Dis Pathol Surveillance Ctr, Cleveland, OH 44106 USA

[4] Univ Calif Los Angeles, Los Angeles, CA USA

[5] Naples Community Hosp, Naples, FL USA

[6] Temple Community Hosp, Los Angeles, CA USA

来源：

NEUROLOGY | 2002年 / 59卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000035533.86833.28

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1628 / 1630

页数：3

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