PhD conferral Ms Melinda Barkhuizen, MSc.
Supervisors :prof.dr. B.W.W. Kramer, prof.dr. H.W.M. Steinbusch, prof.dr. A.F. Grobler
Co-supervisor: dr. A.W.D.Gavilanes-Jimenez
“Genetic and perinatal risk factors for movement disorders”
Joint Doctoral degree Maastricht University and North West University, South Africa
Keywords: Huntington’s disease, birth complication, perinatal asphyxia, gene-environment interaction, stem cell
Huntington’s disease (HD) is a fatal genetic disease which causes uncontrolled movements by affecting the striatum of the brain. Genetics only partially predict the age of onset. Firstly, the research showed that in a cohort of 13.856 HD-carriers, persons with birth complications were diagnosed up to 6 years earlier. The most common birth complication among these persons: perinatal asphyxia (PA), increased nitrosidative stress in the striatum of a rat model. Nitrosidative stress is also an important factor in HD and could contribute to the gene-environment interaction found. Lastly, we showed that treatment with bone-marrow derived stem cells shortly after PA reduced the degree of disability in adulthood.
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