Laboratory and imaging studies for the diagnosis of prion disease

• Published in: Rinshō shinkeigaku Vol. 43; no. 11; p. 810
• Main Authors: Shiga, Yusei, Miyazawa, Koichi, Takeda, Atsushi, Arai, Hiroyuki, Doh-ura, Katsumi, Itoyama, Yasuto
• Format: Journal Article
• Language: Japanese
• Published: Japan 01.11.2003
• Subjects: 14-3-3 Proteins; Aged; Aged, 80 and over; Biomarkers - cerebrospinal fluid; Creutzfeldt-Jakob Syndrome - classification; Creutzfeldt-Jakob Syndrome - diagnosis; Electroencephalography; Female; Humans; Magnetic Resonance Imaging - methods; Male; Middle Aged; Phosphopyruvate Hydratase - cerebrospinal fluid; Sensitivity and Specificity; tau Proteins - cerebrospinal fluid; Tyrosine 3-Monooxygenase - cerebrospinal fluid
• ISSN: 0009-918X

We evaluated the diagnostic sensitivity of periodic synchronous discharge (PSD) in EEG, brain specific proteins in CSF such as neuron specific enolase (NSE), 14-3-3 protein, and tau protein, and imaging studies performed by T2-weighted MRI (T2I) and diffusion-weighted MRI (DWI). 36 patients with a mean age of 68.6 years were enrolled. Their diagnostic levels were as follows: seven were definite, 28 were possible, and one was probable who had a disease-specific point mutation of V180I. The diagnostic sensitivities of PSD, NSE, 14-3-3 protein, tau protein, DWI, and T2I were 50% (N = 36), 70% (N = 30), 80.8% (N = 26), 87.5% (N = 16), 92.3% (N = 26), and 42.3% (N = 26), respectively. DWI could revealed the CJD-related lesions earlier than the appearance of PSD. DWI revealed the lesions even in the patients who did not show PSD. For the diagnosis of CJD, DWI and either 14-3-3 protein or tau protein are useful. Using western blot, we detected the protease-resistant PrP in the urine of 11 of 15 CJD patients. We also detected it in three of 25 disease control patients. Differing from previous reports, the detection of a protease-resistant PrP was not specific to CJD patients. However, the sensitivity was 73.3% and the specificity was 88.9%.