Hereditary Creutzfeldt-Jakob disease caused by a mutation at codon 200

被引：5

作者：

Bertrand, A ^{[1
]}

Martinez-Almoyna, L ^{[1
]}

de Broucker, T ^{[1
]}

机构：

[1] Hop Delafontaine, Serv Neurol, F-93205 Saint Denis, France

来源：

REVUE NEUROLOGIQUE | 2005年 / 161卷 / 03期

关键词：

Creutzfeldt-Jakob disease; genetic diagnosis; diffusion MRI;

D O I：

10.1016/S0035-3787(05)85062-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Introduction. A typical case of genetic Creutzfeldt-Jakob disease in a 39-year-old woman without remarkable familial history is described Case report. Initial symptoms were disequilibrium, cerebellar syndrome and complex neurovisual complaints. EEG was pseudoperiodic. NSE and 14-3-3 protein levels were elevated in the CSF MRI showed anomalies of the anterior parts of the putamen and the caudate nuclei on the MRI T2 FLAIR sequence, mainly on diffusion sequences. A quinacrine test did not yield any effect. Death eventually occurred 8 months after the first symptoms. Conclusion. Current data on genetic Creutzfeldt-Jakob disease are briefly reviewed.

引用

页码：351 / 354

页数：4

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