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Cerebellar degeneration


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Overview

What is cerebellar degeneration?

What are the signs and symptoms of cerebellar degeneration?


What causes cerebellar degeneration?

Is cerebellar degeneration inherited?

Is genetic testing available for cerebellar degeneration?

How is cerebellar degeneration diagnosed?

How might cerebellar degeneration be treated?


What is the long-term outlook for people with cerebellar degeneration?


What is cerebellar degeneration?

Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.[1]
Last updated: 12/14/2014

What are the signs and symptoms of cerebellar degeneration?

Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or legs; slowed and slurred speech; and nystagmus.[1] Although cerebellar disorders usually strike adults in middle age, the age of symptomatic onset varies depending on the underlying cause of the degeneration.[2]

Studies have shown that many patients with movement disorders caused by damage to the cerebellum also have psychiatric symptoms. These studies suggest that patients with cerebellar diseases may benefit from screening and treatment of psychiatric disorders.[2]
Last updated: 12/14/2014

What causes cerebellar degeneration?

Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include:[1]
Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.[1]
Last updated: 12/14/2014

Is cerebellar degeneration inherited?

Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.[3][1]

Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. [4][5]

Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders.[1]
Last updated: 12/14/2014

Is genetic testing available for cerebellar degeneration?

Genetic testing is only available for cerebellar degeneration that is caused by an inherited change (mutation) in a disease-causing gene. For example, genetic testing is available for many different genes known to cause spinocerebellar ataxia (SCA) which is one cause of inherited cerebellar degeneration.[6] For more information on genetic testing for SCA, please click here.

For many conditions known to cause cerebellar ataxia, the genetic cause is unknown or the condition is acquired (non-genetic and non-inherited).[1] Genetic testing is not an option for people with these conditions.
Last updated: 12/15/2014

How is cerebellar degeneration diagnosed?

A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. However, this is only an option if the disease-causing gene for that particular condition is known.[6] In cerebellar degeneration caused by acquired (non-genetic and non-inherited) conditions or conditions with an unknown genetic cause, imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) may be necessary to establish a diagnosis. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities found in people with cerebellar degeneration.[7]
Last updated: 12/15/2014

How might cerebellar degeneration be treated?

There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.[3]

In acquired (non-genetic and non-inherited) forms of cerebellar degeneration, some signs and symptoms may be reversible with treatment of the underlying cause.[8] For example, paraneoplastic cerebellar degeneration may improve after successful treatment of the underlying cancer. For alcoholic/nutritional cerebellar degeneration, symptoms are often relieved with discontinuation of alcohol abuse, a normal diet and dietary supplementation with thiamine and other B vitamins.[9]
Last updated: 12/15/2014

What is the long-term outlook for people with cerebellar degeneration?

The long-term outlook (prognosis) for people with cerebellar degeneration varies depending on the underlying cause.[3]
Last updated: 12/15/2014

References
  1. NINDS Cerebellar Degeneration Information Page. National Institute of Neurological Disorders and Stroke. February 2014; http://www.ninds.nih.gov/disorders/cerebellar_degeneration/cerebellar_degeneration.htm.
  2. Study Finds Psychiatric Disorders are Common in People with Cerebellar Degeneration. National Institute of Neurological Disorders and Stroke (NINDS). March 8, 2005; http://www.ninds.nih.gov/news_and_events/news_articles/news_article_cerebellar.htm.
  3. NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page. National Institute of Neurological Disorders and Stroke. April 2014; http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm.
  4. Multiple System Atrophy. Genetics Home Reference. January 2012; http://ghr.nlm.nih.gov/condition/multiple-system-atrophy.
  5. Multiple Sclerosis. Genetics Home Reference. April 2013; http://ghr.nlm.nih.gov/condition/multiple-sclerosis.
  6. Autosomal Dominant Hereditary Ataxia. NORD. April 2014; http://rarediseases.org/rare-disease-information/rare-diseases/byID/674/viewFullReport.
  7. Puneet Opal, MD, PhD; Huda Y Zoghbi, MD. The spinocerebellar ataxias. UpToDate. November 2014;
  8. Cerebellar Disorders. Merck Manual. August 2013; http://www.merckmanuals.com/professional/neurologic_disorders/movement_and_cerebellar_disorders/cerebellar_disorders.html?qt=&sc=&alt=.
  9. Cerebellar Degeneration, Subacute. NORD. 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cerebellar%20Degeneration%2C%20Subacute.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.