Castellani R J, Colucci M, Xie Z, Zou W, Li C, Parchi P, Capellari S, Pastore M, Rahbar M H, Chen S G, Gambetti P
National Prion Disease Pathology Surveillance Center, Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, OH 44106, USA.
Neurology. 2004 Aug 10;63(3):436-42. doi: 10.1212/01.wnl.0000135153.96325.3b.
The increase of the 14-3-3 protein in CSF is used as a diagnostic test in Creutzfeldt-Jakob disease (CJD), but the sensitivity and specificity of the 14-3-3 test are disputed. One reason for the dispute may be the recently established heterogeneity of sporadic CJD. The relationship between CSF 14-3-3 protein and sporadic CJD subtypes, distinguished by electrophoretic mobility of proteinase K-resistant prion protein (PrP(Sc)) and genotype at codon 129 of the prion protein gene, has not been elucidated.
The authors examined the 14-3-3 protein test in 90 patients with sporadic CJD. PrP(Sc) type (type 1 or type 2) and the genotype at polymorphic codon 129 were determined in each patient. Mutations were excluded by prion gene sequencing.
The authors' findings indicate that the sensitivity of the 14-3-3 test is higher in patients with molecular features of the classic sporadic CJD than in patients with the nonclassic CJD subtypes. The difference appears to be related to the PrP(Sc) type and not to the codon 129 genotype. Disease duration before 14-3-3 testing might also have an influence because it was shorter in classic sporadic CJD.
The Creutzfeldt-Jakob disease clinical subtype should be considered when interpreting results of the 14-3-3 test.
脑脊液中14-3-3蛋白水平升高被用作克雅氏病（CJD）的诊断检测方法，但14-3-3检测的敏感性和特异性存在争议。争议的一个原因可能是最近发现的散发性CJD的异质性。脑脊液14-3-3蛋白与散发性CJD亚型之间的关系尚未阐明，散发性CJD亚型是根据蛋白酶K抗性朊病毒蛋白（PrP(Sc)）的电泳迁移率和朊病毒蛋白基因第129密码子的基因型来区分的。
作者检测了90例散发性CJD患者的14-3-3蛋白检测情况。确定了每位患者的PrP(Sc)类型（1型或2型）和多态性密码子129处的基因型。通过朊病毒基因测序排除了突变。
作者的研究结果表明，14-3-3检测在具有经典散发性CJD分子特征的患者中的敏感性高于非经典CJD亚型患者。这种差异似乎与PrP(Sc)类型有关，而与密码子129基因型无关。14-3-3检测前的病程可能也有影响，因为经典散发性CJD的病程较短。
在解释14-3-3检测结果时应考虑克雅氏病的临床亚型。
