Genetic and perinatal risk factors for movement disorders

Abstract

Movement disorders, such as Parkinson's disease (PD), Huntington's disease (HD) and cerebral palsy (CP) are debilitating diseases with a great societal impact. These disorders are characterized by damage to the basal ganglia-a set of brain structures involved in motor coordination. The majority of PD cases are idiopathic and thought to be due to the cumulative effect of several genetic and environmental insults over a lifetime on the substantia nigra. In this thesis, I focused on risk factors for basal ganglia damage. I started by screening Caucasian South Africans with PD for variation in the GBA gene, encoding glucocerebrosidase. 12.38% of PD patients and 5.00% of controls in this population group carried a GBA variant, which is comparable to European populations.