Pubblicazioni

Autori:

Zanusso, Gianluigi; Monaco, Salvatore; Pocchiari, Maurizio; Caughey, Byron

Titolo:

Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease

Anno:

2016

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

NATURE REVIEWS. NEUROLOGY

ISSN Rivista:

1759-4758

N° Volume:

12

Intervallo pagine:

325-333

Parole chiave:

diagnostic markers; prion diseases; Creutzfeldt-Jakob disease

Breve descrizione dei contenuti:

Early and accurate diagnosis of Creutzfeldt-Jakob disease (CJD) is a necessary to distinguish this untreatable disease from treatable rapidly progressive dementias, and to prevent iatrogenic transmission. Currently, definitive diagnosis of CJD requires detection of the abnormally folded, CJD-specific form of protease-resistant prion protein (PrP(CJD)) in brain tissue obtained postmortem or via biopsy; therefore, diagnosis of sporadic CJD in clinical practice is often challenging. Supporting investigations, including MRI, EEG and conventional analyses of cerebrospinal fluid (CSF) biomarkers, are helpful in the diagnostic work-up, but do not allow definitive diagnosis. Recently, novel ultrasensitive seeding assays, based on the amplified detection of PrP(CJD), have improved the diagnostic process; for example, real-time quaking-induced conversion (RT-QuIC) is a sensitive method to detect prion-seeding activity in brain homogenate from humans with any subtype of sporadic CJD. RT-QuIC can also be used for in vivo diagnosis of CJD: its diagnostic sensitivity in detecting PrP(CJD) in CSF samples is 96%, and its specificity is 100%. Recently, we provided evidence that RT-QuIC of olfactory mucosa brushings is a 97% sensitive and 100% specific for sporadic CJD. These assays provide a basis for definitive antemortem diagnosis of prion diseases and, in doing so, improve prospects for reducing the risk of prion transmission. Moreover, they can be used to evaluate outcome measures in therapeutic trials for these as yet untreatable infections.

Pagina Web:

http://dx.doi.org/10.1038/nrneurol.2016.65

Id prodotto:

92727

Handle IRIS:

11562/947198

ultima modifica:

15 novembre 2022

Citazione bibliografica:

Zanusso, Gianluigi; Monaco, Salvatore; Pocchiari, Maurizio; Caughey, Byron, Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease «NATURE REVIEWS. NEUROLOGY» , vol. 12 , 2016 , pp. 325-333

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo