Biomarcadores diagnósticos de la enfermedad de Creutzfeld-Jakob

Abstract

Introduction: transmissible spongiform encephalopathies are a group of low-incidence diseases characterized by neuronal deposits of misfolded prion protein, which present with rapidly progressing dementia. Currently there are no effective therapies and its evolution is fatal. Diagnostic criteria include a combination of neurological symptoms, neuroimaging tests, and cerebrospinal fluid (CSF) biomarkers. However, there is some controversy about the clinical value of these tests and the definitive diagnosis still requires neuropathological confirmation by cerebral biopsy. Objective: the objective of this review is to present an update on the clinical utility of the main biomarkers available for the diagnosis of CreutzfeldtJakob disease (CJD). Material and methods: recent advances in diagnostic tests have led to increasingly specific detection of CJD. Specifically, the Real-time quaking-induced conversion (RT-QuIC) has the same sensitivity with higher specificity than the best surrogate biomarkers in CSF. Conclusion: the inclusion of RT-QuIC in the diagnostic criteria for CJD, together with the clinical characteristics and suggestive abnormalities in supporting investigations, such as electroencephalogram, MRI, and biomarkers in CSF, has constituted an important advance for pre-mortem study. And new therapeutic strategies.