Università di Bologna, Dipartimento di Scienze Biomediche e Neuromotorie, Bologna, Italy.
Ospedale Carlo Poma, UOC di Neurologia, Mantova, Italy.
J Neurol Neurosurg Psychiatry. 2017 Sep;88(9):764-772. doi: 10.1136/jnnp-2017-315942. Epub 2017 Jul 1.
Sporadic Creutzfeldt-Jakob disease (sCJD) includes a broad spectrum of clinical-pathological subtypes, which complicates the clinical differential diagnosis with other rapidly progressive neurological syndromes.
To provide a better characterisation of clinical features and results of diagnostic investigations, especially at an early disease stage, in patients with sCJDVV2, the second most common sCJD subtype.
We evaluated neurological symptoms/signs, and results of brain diffusion-weighted resonance imaging (DW-MRI), electroencephalographic recordings (EEG) and cerebrospinal fluid (CSF) biomarker studies in 120 patients with a definite (n=93) or probable (n=27) diagnosis of sCJDVV2.
All patients presented with prominent cerebellar signs, which were often associated with memory loss and/or oculomotor, visual or peripheral/spinal cord signs. In contrast, dementia was invariably a late finding. All CSF samples were positive for the 14-3-3 protein assay and had total-tau protein levels above 1250 pg/mL. Brain DW-MRI showed hyperintensity of basal ganglia, thalamus and cerebral cortex, respectively in 91.5%, 57.4% and 19.1% of cases. EEG revealed periodic sharp-wave complexes in only 17.8% of cases.
sCJDVV2 should be considered in any patient presenting with a rapidly progressive ataxia, especially when associated with oculomotor, visual or peripheral/spinal cord signs, even in the absence of dementia or myoclonus. CSF assays and brain DW-MRI represent sensitive diagnostic tests, even at an early stage. These data strongly suggest that sCJDVV2 can be clinically diagnosed early and accurately based on clinical data, DW-MRI, CSF assays and codon 129 genotyping and provide the basis for improved and subtype-specific diagnostic criteria of sCJD.
散发性克雅氏病（sCJD）包括广泛的临床-病理亚型，这使得其与其他快速进展性神经综合征的临床鉴别诊断变得复杂。
更好地描述 sCJDVV2 患者的临床特征和诊断性检查结果，尤其是在疾病早期，sCJDVV2 是第二常见的 sCJD 亚型。
我们评估了 120 例明确（n=93）或可能（n=27）诊断为 sCJDVV2 的患者的神经症状/体征，以及大脑弥散加权磁共振成像（DW-MRI）、脑电图（EEG）和脑脊液（CSF）生物标志物研究的结果。
所有患者均表现出明显的小脑体征，这些体征常伴有记忆丧失和/或眼球运动、视觉或周围/脊髓体征。相反，痴呆症总是晚期发现。所有 CSF 样本均对 14-3-3 蛋白检测呈阳性，总 tau 蛋白水平均高于 1250 pg/mL。大脑 DW-MRI 显示基底节、丘脑和大脑皮层分别有 91.5%、57.4%和 19.1%的病例呈高信号。只有 17.8%的病例的 EEG 显示周期性尖波复合体。
任何出现快速进行性共济失调的患者，特别是伴有眼球运动、视觉或周围/脊髓体征的患者，即使没有痴呆或肌阵挛，也应考虑 sCJDVV2。CSF 检测和大脑 DW-MRI 是敏感的诊断性检查，即使在早期也是如此。这些数据强烈表明，sCJDVV2 可以根据临床数据、DW-MRI、CSF 检测和 129 密码子基因型进行早期和准确的临床诊断，并为改进和亚型特异性 sCJD 诊断标准提供依据。
