Korelace genotypu a fenotypu cerebrálních mikroangiopatií

• Thesis title in Czech: Korelace genotypu a fenotypu cerebrálních mikroangiopatií
• Thesis title in English: Genotype-phenotype correlations in cerebral microangiopathies
• Key words: mozková mikroangiopatie, small vessel disease, genetika, cévní mozková příhoda, CADASIL
• English key words: microangiopathy, cerebral small vessel disease, genetics, stroke, CADASIL
• Academic year of topic announcement: 2023/2024
• Thesis type: dissertation
• Thesis language: čeština
• Department: Department of Neurology (13-442)
• Supervisor: doc. MUDr. Aleš Tomek, Ph.D.
• Author: hidden - assigned and confirmed by the Study Dept.
• Date of registration: 02.10.2023
• Date of assignment: 02.10.2023
• Confirmed by Study dept. on: 05.12.2023

References

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Preliminary scope of work

V rámci projektu budou vyšetřeni pacienti s cerebrální mikroangiopatií (tzv. cerebral small vessel disease, CSVD), kteří budou mít suspektní fenotyp z možné hereditární příčiny. U těchto pacientů bude ve spolupráci s Ústavem biologie a lékařské genetiky 2.LF UK a FNM provedeno genetické vyšetření kandidátních genů, zahrnutých v nově vytvořeném kardio-neuro-vaskulárním genetickém panelu. U pacientů bude dále provedeno zobrazovací vyšetření mozku pomocí magnetické rezonance a transkraniálního ultrazvuku, screening a monitorace kardiovaskulárních rizikových faktorů a základní screeningová baterie neuropsychologických testů. Bude vytvořena databáze fenotypu a genotypu pro CSVD, kde budou zaznamenány výsledky provedených vyšetření. Pro účely porovnání některých parametrů vznikne odpovídající soubor kontrol bez mikrovaskulární patologie.

Preliminary scope of work in English

In our project we would like to examine patients with cerebral small vessel disease (CSVD), the examination will be done in patients whose phenotype suggest a possible hereditary cause. The examination, which includes a new genetic protocol with candidate genes related to cardio-neuro-vascular diseases, will be done in collaboration with the Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital. The patients will also undergo a brain imaging using magnetic resonance and transcranial duplex ultrasonography. Our team will perform an assessment of patients cognitive level with basic neuropsychological test battery. We will create a new genotype- phenotype database of CSVD with all the results and with the cardiovascular screening risk factors. For comparison purposes of the collected parameters we will create a sex-related and age-related control group of individuals without cerebral microangiopathy.