Author/Editor		Popović, Mara; Glavač, Damjan; Černilec, Maja
Title		Molecular diagnostics of human prion disease
Translated title		Molekularna diagnostika prionskih bolezni
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 199-205
Language		eng
Abstract		Human prion diseases are inevitably fatal neurodegenerative disorders caused by prions, infectious proteinaceous particles without nucleic acid. The most common human prion disease, Creutzfeldt-Jakob disease, is the only human disorder appearing in three etiopathogenic forms: sporadic, familiar and infectious. There is no specific clinical or laboratory test to make a definite diagnosis of Creutzfeldt-Jakob disease during the patient's life. Post mortem examination of the brain using immunohistochemistry, Western blot and gene analysis is the only way of establishing a definite diagnosis of Creutzfeldt-Jakob disease. In this report, we present the Slovenian definite Creutzfeldt-Jakob disease cases and molecular methods used to confirm or reject clinical suspicion of the disease.
Descriptors		PRION DISEASES CREUTZFELDT-JAKOB SYNDROME IMMUNOHISTOCHEMISTRY