INFLAMMATION IN GAUCHER DISEASE AND GBA-RELATED PARKINSONISM

Parkinsons disease is the most common degenerative movement disorder, causing massive burden for the patients and their caregivers. The hallmark of the disease are slowness of movement, tremor and muscle rigidity. The morphological basis of the disease has been increasingly discovered, however, the mechanisms leading to these changes are still unclear. Interestingly, the spreading of abnormally changed proteins seems to follow a hierarchical pattern. Whereas some brain regions are affected in all patients, some brain regions seem to be spared in all of them. This results in a stereotypical development of symptoms during the course of the disease. Since the last 10 years, an essential role in the development of the disease has been attributed to cellular enzymes and degradation mechanisms of pathologically altered proteins. This finding led to a theory, that Parkinsons disease might be linked to inborn errors of metabolism. This study, thus, aims to investigate the mechanisms within the cells in the brain, which may lead to Parkinsons disease. In particular, the study will focus on neurons and so-called glia cells as well as inflammatory reactions in the brain. Our findings should help us understand the mechanisms behind the regional susceptibility and vulnerability in Parkinsons disease, which could open new possibilities for targeted therapy.