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Review
. 2010 Sep;9(3):272-83.
doi: 10.1007/s12311-010-0169-6.

Novel approaches to studying the genetic basis of cerebellar development

Samin A Sajan  1 , Kathryn E Waimey, Kathleen J Millen
Affiliations
Review

Novel approaches to studying the genetic basis of cerebellar development

Samin A Sajan et al. Cerebellum. 2010 Sep.

Abstract

The list of genes that when mutated cause disruptions in cerebellar development is rapidly increasing. The study of both spontaneous and engineered mouse mutants has been essential to this progress, as it has revealed much of our current understanding of the developmental processes required to construct the mature cerebellum. Improvements in brain imaging, such as magnetic resonance imaging (MRI) and the emergence of better classification schemes for human cerebellar malformations, have recently led to the identification of a number of genes which cause human cerebellar disorders. In this review we argue that synergistic approaches combining classical molecular techniques, genomics, and mouse models of human malformations will be essential to fuel additional discoveries of cerebellar developmental genes and mechanisms.

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Figures

Fig. 1
Fig. 1
Magnetic resonance images (MRI) showing sagittal views of the cerebellar vermis from a subset of human cerebellar malformations. The image of a patient with cerebellar vermis hypoplasia (CVH) shows decreased vermis size that does not reach the obex, the narrowing of the fourth ventricle in the caudal medulla (white line), as occurs in normal subjects. In addition to vermis hypoplasia, subjects with Dandy–Walker malformation (DWM) also exhibit an increased posterior fossa size and an upward rotation of the vermis. The parasagittal image of a patient with Joubert syndrome shows vermis hypoplasia and an elongated superior cerebellar peduncle (white arrowhead). The plane of this off-midline image is designated with a dotted white line in the corresponding axial image. The “molar tooth” malformation of Joubert syndrome and related disorders can be seen in the axial MRI as elongated cerebellar peduncles (white arrowhead) and deepened interpeduncular fossa (black arrow) compared with a normal subject (N; inset). Subjects with pontocerebellar hypoplasia (PCH) exhibit both decreased vermis size and pontine hypoplasia (arrows). Cb cerebellum, PF posterior fossa
See this image and copyright information in PMC

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