Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype

被引：26

作者：

Head, MW ^{[1
]}

Tissingh, G

Uitdehaag, BMJ

Barkhof, F

Bunn, TJR

Ironside, JW

Kamphorst, W

Scheltens, P

机构：

[1] Univ Edinburgh, Western Gen Hosp, Natl CJD Surveillance Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Univ Edinburgh, Western Gen Hosp, Dept Pathol, Edinburgh EH4 2XU, Midlothian, Scotland

[3] Vrije Univ Amsterdam, Med Ctr, Dept Neurol, Amsterdam, Netherlands

[4] Vrije Univ Amsterdam, Med Ctr, Dept Radiol, Amsterdam, Netherlands

[5] Vrije Univ Amsterdam, Med Ctr, Dept Pathol, Amsterdam, Netherlands

来源：

ANNALS OF NEUROLOGY | 2001年 / 50卷 / 02期

关键词：

D O I：

10.1002/ana.1100

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A case of sporadic Creutzfeldt-Jakob disease (sCJD) is described in a young Dutch protein prion gene (PRNP) codon 129 valine homozygote. Certain clinical and molecular features of this case overlap those,of variant CJD. The case highlights possible difficulties in the differential diagnosis of vCJD and the more rare sCJD subtypes based on molecular features alone.

引用

页码：258 / 261

页数：4

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