Principal Investigators

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


    Thomayer hospital

    Contact information of lead PI


    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


    Total duration of award in years



    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.

    Further information available at:

Types: Investments < €500k
Member States: Czech Republic
Diseases: N/A
Years: 2016
Database Categories: N/A
Database Tags: N/A

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