Aslam Sana, Fritz Mason A, Cordes Laura, Sabbagh Marwan N
Barrow Neurological Institute, St. Joseph's Hospital and Medical Center Department of Neurology, Phoenix, Arizona, USA.
Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, Nevada, USA.
J Alzheimers Dis Parkinsonism. 2018;8(5). doi: 10.4172/2161-0460.1000452. Epub 2018 Oct 30.
Developing methods for accurately diagnosing prion diseases has been a challenge in the search for successful diagnosis and treatment of rapidly progressive dementia. prion diseases are rare. However, they should be considered in the differential diagnosis. Despite their rarity, several other conditions are often misdiagnosed as prion diseases. Most Alzheimer's (AD) and Lewy Body Disease (LBD) patients also meet Creutzfeldt-Jakob Disease (CJD) criteria. The similarities in symptomology and pathology between these two patient groups complicates diagnosis and can compromise patient care. Prevalent methods for the diagnosis of CJD lack the heightened sensitivity to conclusively detect CJD. Of all currently available methods, real-time quaking induced conversion (RT-QuIC) analysis provides the highest sensitivity necessary to allow for an accurate diagnosis and yields early, quantitative results.
A 75-year-old woman with rapidly progressing dementia, for which CJD could not be ruled out, appeared for care at a neurological center. Laboratory test results, Magnetic Resonance Imaging (MRI), Cerebrospinal Fluid (CSF) studies, Positron Emission Tomography (PET), and an Electroencephalogram (EEG) proved inadequate to confirm CJD. In addition to AD, LBD, or CJD, other potential, yet improbable, pathologies could have caused the patient's symptoms. The patient's diagnosis ultimately was limited to either LBD or prion disease. Spongiform encephalogy was confirmed by a brain biopsy, and further testing confirmed sporadic CJD.
RT-QuIC offers higher sensitivity than currently prevalent diagnostic methods and appears most promising for CJD diagnosis.
在寻求快速进展性痴呆的成功诊断和治疗方法时，开发准确诊断朊病毒病的方法一直是一项挑战。朊病毒病很罕见。然而，在鉴别诊断中应考虑到它们。尽管它们很罕见，但其他几种病症经常被误诊为朊病毒病。大多数阿尔茨海默病（AD）和路易体病（LBD）患者也符合克雅氏病（CJD）的标准。这两组患者在症状学和病理学上的相似性使诊断变得复杂，并可能影响患者护理。目前用于诊断CJD的方法缺乏足够高的敏感性来最终检测出CJD。在所有现有方法中，实时震颤诱导转化（RT-QuIC）分析提供了准确诊断所需的最高敏感性，并能产生早期定量结果。
一名75岁女性患有快速进展性痴呆，无法排除CJD，前往一家神经科中心就诊。实验室检查结果、磁共振成像（MRI）、脑脊液（CSF）研究、正电子发射断层扫描（PET）和脑电图（EEG）均不足以确诊CJD。除了AD、LBD或CJD外，其他潜在但可能性较小的病症也可能导致患者的症状。患者的诊断最终局限于LBD或朊病毒病。脑活检证实为海绵状脑病，进一步检测确诊为散发性CJD。
RT-QuIC比目前常用的诊断方法具有更高的敏感性，在CJD诊断方面似乎最有前景。
