“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.