Principal Investigators


Mat?j Radoslav doc. MUDr. Ph.D.

Institution


Thomayer hospital

Contact information of lead PI


Country


Czech Republic

Title of project or programme


Multidisciplinary approach in the diagnosis of frontotemporal lobar degenerations and tauopathies: new insights into pathogenetic mechanisms

Source of funding information


Ministry of Health of the Czech Republic

Total sum awarded (Euro)


€ 388,000

Start date of award


01/07/2011

Total duration of award in years


5

Keywords


Research Abstract


Genetic aspects of neurodegenerative diseases and a multidisciplinary approach are of increasing importance. In this study we will enroll patients fulfilling clinical diagnostic criteria of different forms of frontotemporal lobar degenerations (FTLD). Detailed neuropsychological evaluations, cerebrospinal fluid analysis, MR imaging, and DNA isolation form peripheral blood will be performed for all subjects. Molecular genetic exploration will be oriented towards analyses of genes involved in FTLD pathogenesis including direct exon sequencing in selected cases. Postmortem neuropathological examination will allow us to confirm the clinical diagnosis and follow the expression of specific selected proteins related to neurodegeneration. More precise diagnosis and eventually findings of new pathogenic mutations, in clinically less pronounced neurodegeneration, will profoundly modify the accuracy of prognoses and improve genetic consulting for relatives of patients with a proven genetic mutation.

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