Frontiers in Neuroanatomy (Sep 2013)
Congenital hypoplasia of the cerebellum: developmental causes and behavioural consequences
Abstract
Over the last sixty years, the spotlight of research has periodically returned to the cerebellum as new techniques and insights have emerged. Because of its simple homogeneous structure, limited diversity of cell types and characteristic behavioural pathologies, the cerebellum is natural home for studies of cell specification, patterning and neuronal migration. However, recent evidence has extended the traditional range of perceived cerebellar function to include modulation of cognitive processes an association with the mechanisms of Autistic Spectrum Disorder. In the light of this emerging frontier, we review the key stages and genetic mechanisms behind cerebellum development. In particular, we discuss the role of the midbrain hindbrain isthmic organizer in the development of the cerebellar vermis and the specification and differentiation of Purkinje cells and granule neurons. These developmental processes are then considered in relation to recent insights into selected human developmental cerebellar defects: Joubert’s syndrome, Dandy Walker malformation and pontocerebellar hypoplasia. Finally, we review current research that opens up the possibility of using the mouse as a genetic model to study the role of the cerebellum in cognitive function.
Keywords
