Abstract
Inherited cerebellar malformations cause lifelong disability and are not well studied in the newborns because there is a lack of appropriate clinical examination tools. Recently, inherited cerebellar malformations have been investigated using emerging advanced neuroimaging technology such as MRI, which revealed many cerebellar developmental disorders. These malformations cause impairments that involve motor and non-motor functions. Cerebellar hypoplasia, Dandy–Walker syndrome, Joubert syndrome, pontocerebellar hypoplasia, and rhombencephalosynapsis are examples of cerebellar malformations. In this chapter we will focus on cerebellar malformations that have been reported using characteristic symptoms and signs. The current approach for evaluation of the affected patients, differential diagnosis, and management will be discussed.
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Marzban, A., Vafaee-shahi, M., Azarkhish, K. (2017). Clinical Aspects of the Inherited Cerebellar Malformations. In: Marzban, H. (eds) Development of the Cerebellum from Molecular Aspects to Diseases. Contemporary Clinical Neuroscience. Springer, Cham. https://doi.org/10.1007/978-3-319-59749-2_19
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