Sporadic Creutzfeldt-Jakob disease -: Clinical and diagnostic characteristics of the rare VV1 type
Sporadic Creutzfeldt-Jakob disease -: Clinical and diagnostic characteristics of the rare VV1 type
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DOI：
10.1212/01.wnl.0000184674.32924.c9
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发表时间：
2005-11-22
期刊：
影响因子：
9.9
通讯作者：
Zerr, I
中科院分区：
文献类型：
--
作者：
Meissner, B;Westner, IM;Zerr, I
背景：最近，散发性克雅氏病（sCJD）的六种分子亚型已被确定，在病程、神经病理病变模式和对诊断工具的敏感性方面表现出差异。到目前为止，只报告了罕见的VV1型的孤立病例。目的：描述9例神经病变的临床特点和病理特征。方法：自1993年至2003年底，在德国发现571例经神经病理学确诊的散发性克雅氏病。其中9个为缬氨酸纯合子，在大脑中显示1型病理性PrPSc （VV1型）。结果：作者描述了8名男性和1名女性属于VV1型。所有患者发病时相对年轻（中位44岁vs所有sCJD的65岁），病程延长（中位21个月vs所有sCJD的6个月）。在最初阶段，他们的主要临床症状是人格改变和缓慢进行性痴呆以及局灶性神经功能障碍。9例VV1患者脑电图均无周期性尖波复合体（PSWCs）。7名患者中只有2名在MRI上显示基底神经节的典型信号增加，而所有患者的皮质信号都增加。所有病例脑脊液中14- 3- 3蛋白水平均升高。结论：14- 3- 3检查及MRI皮质信号增高对VV1型sCJD的临床诊断有较好的支持。由于发病年龄小，vCJD有时被怀疑是一种鉴别诊断。MRI在鉴别这两种疾病类型中起着重要作用，应在病程早期进行。
Background: Recently, six molecular subtypes of sporadic CJD ( sCJD) have been identified showing differences regarding the disease course, neuropathologic lesion patterns, and sensitivity to diagnostic tools. Only isolated cases of the rare VV1 type have been reported so far. Objective: To describe the clinical characteristics and neuropathologic lesion profiles in nine cases.Methods: In the years 1993 until late 2003, 571 definite neuropathologically confirmed cases of sporadic CJD were identified in Germany. Of these, nine were homozygous for valine and displayed type 1 of the pathologic PrPSc in the brain ( VV1 type).Results: The authors describe eight men and one woman belonging to the VV1 type. All patients were relatively young at disease onset ( median 44 years vs 65 years in all sCJD) with prolonged disease duration ( median 21 months vs 6 months in all sCJD). During the initial stages, their main clinical signs were personality changes and slowly progressive dementia as well as focal neurologic deficits. None of the nine VV1 patients had periodic sharp- wave complexes ( PSWCs) in the EEG. Only two out of seven displayed the typical signal increase of the basal ganglia on MRI, whereas signal increase of the cortex was seen in all patients. The 14- 3- 3 protein levels were elevated in CSF in all cases tested.Conclusions: The clinical diagnosis of the VV1 type of sCJD can be best supported by the 14- 3- 3 test and cortical signal increase on MRI. Because of the young age at onset vCJD is sometimes suspected as a differential diagnosis. MRI plays an important role in differentiating these two disease types and should be performed early during the disease course.