What is Cerebellar Degeneration?

Cerebellar degeneration is a disease process in which neurons in the cerebellum - the area of the brain that controls muscle coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve areas of the brain that connect the cerebellum to the spinal cord, such as the medulla oblongata, the cerebral cortex, and the brain stem. Cerebellar degeneration is most often the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons.

Associated diseases: Diseases that are specific to the brain, as well as diseases that occur in other parts of the body, can cause neurons to die in the cerebellum. Neurological diseases that feature cerebellar degeneration include:

* acute and hemorrhagic stroke, when there is lack of blood flow or oxygen to the cerebellum

* cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration, progressive degenerative disorders in which cerebellar degeneration is a key feature

* Friedreich’s ataxia, and other spinocerebellar ataxias, which are caused by inherited genetic mutations that progressively kill neurons in the cerebellum, brain stem, and spinal cord

* transmissible spongiform encephalopathies (such as "Mad Cow Disease" and Creutzfeldt-Jakob disease) in which abnormal proteins cause inflammation in the brain, particularly in the cerebellum

* multiple sclerosis, in which damage to the insulating membrane (myelin) that wraps around and protects nerve cells can involve the cerebellum





Other diseases that can cause cerebellar degeneration include:

* endocrine diseases that involve the thyroid or the pituitary gland
* chronic alcohol abuse that leads to temporary or permanent cerebellar damage
* paraneoplastic disorders in which tumors in other parts of the body produce substances that cause immune system cells to attack neurons in the cerebellum

Symptoms: The most characteristic symptom of cerebellar degeneration is a wide-legged, unsteady, lurching walk, usually accompanied by a back and forth tremor in the trunk of the body. Other symptoms include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus -- rapid, small movements of the eyes.

What research is being done?

The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration, will eventually help scientists find ways to prevent, treat, and even cure the diseases that involve cerebellar degeneration.