Thesis defense series Ilse Eidhof (Donders series 428)
2 April 2020
Promotors: prof. dr. H. van Bokhoven
Co-promotors: dr. A. Schenck, dr. B. van de Warrenburg
Common Biological Denominators and Mechanisms underlying Ataxia-like Motor Dysfunction: from Human to Fly
Cerebellar Ataxias (CAs) are rare diseases that share motor dyscoordination due to progressive degeneration of the cerebellum as main hallmark. Currently, there is limited knowledge about the pathological mechanisms that underlie CAs and no treatment is available for the large majority of CAs. Functional analysis of genes disrupted in cerebellar ataxias can help to provide insight in molecular networks and mechanisms underlying cerebellar function in health and disease. This is essential for the development of novel therapeutic approaches that modify disease in this currently untreatable group of disorders. The aims of my PhD research were:
- To systematically identify common biological denominators underlying cerebellar ataxias
- Contribute to the establishment of Drosophila melanogaster as model system to study known and new forms of genetic ataxias.
- Investigate the contribution of identified common biological denominators in ataxia to neuronal function in the Drosophila melanogaster mushroom body.
- To establish Drosophila models of ataxia that can be applied to drug testing approaches.