New possibilities of laboratory diagnostics of diseases associated with amyloid formation


Authors: S. Galušková 1;  T. Moško 1;  P. Dušek 2;  R. Matěj 3;  K. Holada 1
Authors‘ workplace: Ústav imunologie a mikrobiologie, 1. LF UK v Praze 1;  Neurologická klinika, 1. LF UK a VFN v Praze 2;  Oddělení patologie a národní, referenční laboratoř TSE-CJN, Thomayerova nemocnice, Praha 3
Published in: Cesk Slov Neurol N 2021; 84/117(4): 334-340
Category: Review Article
doi: 10.48095/cccsnn2021334

Overview

Many neurodegenerative diseases are defined by the aggregation and accumulation of the specific pathological protein in the CNS, leading to irreversible and fatal changes of the tissues. However, due to high clinical and epidemiological heterogeneity, a definitive ante-mortem dia­gnosis is very difficult to perform. The definitive dia­gnosis is confirmed by neuropathological evaluation made only at autopsy. Hope for early and accurate laboratory dia­gnostics of these diseases within a patient’s life represents methods based on the detection of seeding activity of pathological proteins. An example is a highly specific and ultrasensitive new method called Real-Time Quaking-Induced Conversion (RT-QuIC) assay. Originally, RT-QuIC was developed for the dia­gnosis of prions showing 92–97% sensitivity and 100% specificity. In our laboratory, we were able to detect prions in 39 brain samples, corresponding 24 cerebrospinal fluid samples, and in 38 skin samples of patients with Creutzfeldt-Jakob disease using RT-QuIC. Lately, the use of the RT-QuIC method for detection of pathological protein a-synuclein, which accumulates during Parkinson’s disease or dementia with Lewy bodies, and tau protein which is characteristic for Alzheimer’s disease or corticobasal degeneration, was described. This review aims to elucidate the dia­gnosis of neurodegenerative diseases and its recent approaches using RT-QuIC.

Keywords:

brain tract – comparative anatomy – Nervous system – corticospinal tract – optic chiasm – evolution


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Paediatric neurology Neurosurgery Neurology

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