The Center for Cerebellar Malformations

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Center for Cerebellar Malformations

Center Goal: To investigate the genetic causes of cerebellar and hindbrain malformations.

Click on the links below for information (including diagnostic MRI scans) for the conditions under investigation at the CCM:

§ Joubert Syndrome and Related Disorders **Second Gene Discovered**

§ Dandy Walker Malformation

§ Hindbrain encephalocele

§ Pontocerebellar Hypoplasia (PCH)

§ Pontine hypoplasia

§ Cerebellar Vermis Hypoplasia

§ Pancerebellar Hypoplasia

§ Cerebellar Aplasia

§ Rhombencephalosynapsis

§ Lhermitte Duclos Disease (PTEN mutations)

§ Lissencephaly with Cerebellar Hypoplasia

§ Posterior fossa arachnoid cysts

Health Care Professionals:

Click here for more information about genetic studies at the CCM

Family Members:

Click here for additional information about participating in genetic studies at the CCM

Site Driven by The Gleeson Lab

with assistance from

CCM Collaborators

with funding through grants from

The March of Dimes &

The National Institutes of Health