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Cerebellar Agenesis
Abstract
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NORD is very grateful to Eugen Boltshauser, MD, Former Head, Department of Neurology, University Children's Hospital, Zurich, Switzerland, for assistance in the preparation of this report.
Synonyms of Cerebellar Agenesis
- cerebellar aplasia
- isolated cerebellar agenesis
- subtotal cerebellar agenesis
Disorder Subdivisions
- No subdivisions found.
General Discussion
Cerebellar agenesis is an extremely rare condition. Cerebellar agenesis is a descriptive term implying complete absence of the cerebellum, irrespective of its underlying cause (etiology). Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. It is now recognized that cerebellar agenesis can represent a primary disturbance of embryonic development (also called malformation), but it can also result from a secondary destruction of normally developed tissue (also called a disruption). (See the Causes section below for additional information). It is now established that the cerebellum is not only responsible for motor coordination (of muscles, the trunk and limbs, the tongue, and the eye muscles), but also plays an important role in many non-motor functions, including learning, memory, language, and behavior. Therefore, individuals with congenital as well as acquired cerebellar disorders often have learning disabilities, impaired executive functions, and variable degree of cognitive impairments.
Organizations related to Cerebellar Agenesis
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