‘Nasal brushing’ technique shows promise for diagnosis of Creutzfeldt–Jakob disease

MRI brain scan of brain with Creutzfeldt-Jakob disease.

Diagnosing prion diseases such as Creutzfeldt–Jakob disease (CJD) is difficult. A promising approach is the detection of a CJD-specific prion protein (PrPCJD) using an in-vitro amplification technology known as real-time quaking-induced conversion (RT-QuIC).

Preliminary work by a US–Italian team, reported in The New England Journal of Medicine, suggests that RT-QuIC can detect PrPCJD in olfactory epithelium samples obtained through nasal brushing – a simple, minimally invasive technique[1]
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In 31 CJD patients and 43 control patients, nasal brushings had 97% sensitivity and 100% specificity for CJD. By comparison, cerebrospinal fluid had 77% sensitivity and 100% specificity, and took twice as long to obtain.

The RT-QuIC test could help to establish a definitive diagnosis of CJD in living patients, according to the researchers.

References

 

[1] Christina D. Orrú., et al. New England Journal of Medicine 2014;371:519-529

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Citation
The Pharmaceutical Journal, PJ, 23/30 August 2014, Vol 293, No 7824/5;293(7824/5):DOI:10.1211/PJ.2014.20066145