Brain Bank
Third Faculty of Medicine, Charles University, Prague
Thomayer University Hospital, Prague
Research objectives:
– Complex analysis of tissue samples in diagnosed neurodegenerative disorders based on concise correlations of clinical manifestation, neuroimage results, biomarker findings and neuropathological verification of causative misfolded protein deposits in brain tissue samples using whole spectrum of neuropathological methods.
– Retrospective investigation of protein biomarkers in cerebrospinal fluid samples and other tissues in correlation with the expression of pathologically conformed proteins in different brain areas and their impact on clinical manifestation of disease symptoms and signs. By this approach, we can established new useful tools for intravital diagnosis of neurodegenerative disorders. We will focus on close interdisciplinary collaboration and correlate neuronal cell loss in different brain areas with the distribution of misfolded protein inclusion on one hand, and the presence/absence of motor symptoms, oculomotor abnormalities and both the extent and proportionality of impairment in main cognitive domains (memory, language, visuospatial functions, gnostic and executive functions) paired with the evaluation of MRI signal abnormalities and different focal atrophy patterns taking into consideration results of cerebrospinal analysis for various proteinopathies (amyloid beta, tau, alfa-synuclein, 14-3-3 protein, neurofilaments, etc.)
– Detailed neurogenetic analysis of modifications in genes coding proteins directly involved in neurodegeneration and both known polymorphisms and variants of uncertain causal significance as well as epigenetic factor, which allows understand the possible genetic and epidenetic predisposition to the neurodegenerations. For the genetic analysis and correlations with histopathology and clinical profiles we will base on different panels for neurodegenerative disorders and massive parallel sequencing of next generation (NGS) for retrospective analysis of gene modifications in neurodegenerative disorders