Jankovska Nikol, Rusina Robert, Keller Jiri, Kukal Jaromir, Bruzova Magdalena, Parobkova Eva, Olejar Tomas, Matej Radoslav
Department of Pathology and Molecular Medicine, Third Faculty of Medicine, Charles University and Thomayer University Hospital, 140 59 Prague, Czech Republic.
Department of Neurology, Third Faculty of Medicine, Charles University and Thomayer University Hospital, 140 59 Prague, Czech Republic.
Biomedicines. 2022 Mar 16;10(3):680. doi: 10.3390/biomedicines10030680.
Creutzfeldt-Jakob disease (CJD), the most common human prion disorder, may occur as "pure" neurodegeneration with isolated prion deposits in the brain tissue; however, comorbid cases with different concomitant neurodegenerative diseases have been reported. This retrospective study examined correlations of clinical, neuropathological, molecular-genetic, immunological, and neuroimaging biomarkers in pure and comorbid CJD. A total of 215 patients have been diagnosed with CJD during the last ten years by the Czech National Center for Prion Disorder Surveillance. Data were collected from all patients with respect to diagnostic criteria for probable CJD, including clinical description, EEG, MRI, and CSF findings. A detailed neuropathological analysis uncovered that only 11.16% were "pure" CJD, while 62.79% had comorbid tauopathy, 20.47% had Alzheimer's disease, 3.26% had frontotemporal lobar degeneration, and 2.33% had synucleinopathy. The comorbid subgroup analysis revealed that tauopathy was linked to putaminal hyperintensity on MRIs, and AD mainly impacted the age of onset, hippocampal atrophy on MRIs, and beta-amyloid levels in the CSF. The retrospective data analysis found a surprisingly high proportion of comorbid neuropathologies; only 11% of cases were verified as "pure" CJD, i.e., lacking hallmarks of other neurodegenerations. Comorbid neuropathologies can impact disease manifestation and can complicate the clinical diagnosis of CJD.
克雅氏病（CJD）是最常见的人类朊病毒病，可能表现为“单纯”的神经退行性变，脑组织中仅有孤立的朊病毒沉积；然而，也有报道称存在与不同伴随神经退行性疾病的合并病例。这项回顾性研究检查了单纯型和合并型CJD的临床、神经病理学、分子遗传学、免疫学和神经影像学生物标志物之间的相关性。在过去十年中，捷克国家朊病毒病监测中心共诊断出215例CJD患者。收集了所有患者符合可能CJD诊断标准的数据，包括临床描述、脑电图、磁共振成像（MRI）和脑脊液检查结果。详细的神经病理学分析发现，只有11.16%为“单纯”CJD，而62.79%合并有tau蛋白病，20.47%合并有阿尔茨海默病，3.26%合并有额颞叶痴呆，2.33%合并有突触核蛋白病。合并症亚组分析显示，tau蛋白病与MRI上的壳核高信号有关，而阿尔茨海默病主要影响发病年龄、MRI上的海马萎缩以及脑脊液中的β-淀粉样蛋白水平。回顾性数据分析发现合并神经病理学的比例高得出奇；只有11%的病例被确认为“单纯”CJD，即没有其他神经退行性变的特征。合并神经病理学可影响疾病表现，并使CJD的临床诊断复杂化。
