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Specific spectroscopic MR metabolite profile and tau proteins profile in autopsy-proven Creutzfeldt-Jakob's disease in a patient with non-specific initial EEG, MRI and negative 14-3-3 protein

Over the last several years, it has became clear that electroencephalogram (EEG), magnetic resonance imaging (MRI) and measurement of cerebrospinal fluid (CSF) 14-3-3 proteins are of limited potential in the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD). However, some recent reports suggested that magnetic resonance spectroscopy (MRS) and measurement of CSF total tau (t-tau) and phospho-tau (p-tau) proteins could be more useful for ante mortem diagnosis of sCJD. We therefore included these two methods in the diagnostic procedure of a patient with clinically suspected (and later autopsy-proven) sCJD. In contrast to non-specific EEG and MRI findings and negative 14-3-3 proteins in CSF, MRS revealed metabolic alterations in regions of the brain that looked apparently normal on MRI, while tau proteins profiles showed increased levels of both non-phosphorylated and some phosphorylated tau isoforms. We concluded that a combination of serial functional MRI together with MRS and measurement of CSF tau proteins in patients with rapidly progressive dementia syndrome helps to obtain a more reliable early diagnosis of sCJD.

sporadic Creutzfeldt-Jakob disease; magnetic resonance spectroscopy; tau proteins; cerebrospinal fluid

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