Utilità dei marcatori proteici liquorali nella diagnosi di malattia di Creutzfeldt–Jakob

AUTORI

ABSTRACT

Usefulness of cerebrospinal fluid protein markers for the diagnosis of Creutzfeldt-Jakob disease

Diagnosis of Creutzfeldt-Jakob disease is based on typical neuropsychiatric symptoms, imaging studies (magnetic resonance imaging, electroencephalogram) and detection of 14-3-3 or prion protein PrPSc by amplification techniques [Real Time Quaking-Induced Conversion Assay for Prion (Prion-RT-Quic)]. More recently, effective and more widely used biomarkers have been proposed: Tau protein, the ratio of total Tau protein (t-Tau) to its phosphorylated form [p-Tau(181)], the ratio of β amyloid (1-42) to p-Tau(181), and t-Tau/p-Tau(181) multiplied by β amyloid(1-42). Determination of the levels and calculation of specific ratios of the different markers mentioned above are part of the routine diagnostics of the autoimmunity laboratory and allows to confirm the clinical suspicion of sporadic prion disease especially in young patients, anticipating the result of the 14-3-3 protein search and RT-Prion Quic test, usually performed in reference centers.

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