Heinemann Uta, Krasnianski Anna, Meissner Bettina, Grasbon-Frodl Eva M, Kretzschmar Hans A, Zerr Inga
Department of Neurology, Georg-August University Gottingen, Gottingen, Germany.
Med Sci Monit. 2008 May;14(5):CS41-43.
Creutzfeldt-Jakob disease is a rare neurodegenerative disorder with a worldwide incidence of 1.5 per million inhabitants. About 10-15% of all cases of Creutzfeldt-Jakob disease are of genetic origin and display a large variety in clinical presentation (regarding disease duration, age at onset, and others). The goal of this report was to describe the clinical features and diagnostic tests in a patient with a novel prion protein gene (PRNP) D202G mutation.
A 71-year-old patient had all the clinical signs of Creutzfeldt-Jakob disease (CJD) but an extremely prolonged disease duration of 16 years. The 14-3-3 protein test was positive, while MRI and EEG did not show CJD typical changes. Family history was positive for cerebellar and dementia disorders without definite diagnoses. Full-length sequencing of the prion protein gene (PRNP) showed a new D202G mutation associated with valine on codon 129 of unknown significance. Methionine/valine heterozygosity at codon 129 was found.
These findings highlight the value of 14-3-3 and gene analysis in unclear neurological disorders to detect possibly atypical presentations of prion disorders. The significance of this new mutation will remain unclear until further such patients are reported.
克雅氏病是一种罕见的神经退行性疾病，全球发病率为每百万居民1.5例。所有克雅氏病病例中约10%-15%为遗传起源，临床表现（涉及疾病持续时间、发病年龄等）具有很大差异。本报告的目的是描述一名患有新型朊蛋白基因（PRNP）D202G突变患者的临床特征和诊断测试。
一名71岁患者具有克雅氏病（CJD）的所有临床体征，但疾病持续时间极长，达16年。14-3-3蛋白检测呈阳性，而MRI和脑电图未显示CJD的典型变化。家族史显示小脑和痴呆症呈阳性，但未明确诊断。朊蛋白基因（PRNP）的全长测序显示一个新的D202G突变，与密码子129上的缬氨酸相关，意义不明。在密码子129处发现甲硫氨酸/缬氨酸杂合性。
这些发现突出了14-3-3和基因分析在不明原因神经系统疾病中检测朊病毒疾病可能非典型表现的价值。在报告更多此类患者之前，这种新突变的意义仍不明确。
