Ataxias and Cerebellar or Spinocerebellar Degeneration

Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.

What are Ataxias and Cerebellar or Spinocerebellar Degeneration?

Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.

Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.

Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

Is there any treatment?

There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be used to treat gait and swallowing disorders. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.

What is the prognosis?

The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.

What research is being done?

The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may lead to breakthroughs in treatment.

NIH Patient Recruitment for Ataxia Clinical Trials

• Ataxia Clinical Trials
• At NIH Clinical Center
• Throughout the U.S. and Worldwide

Organizations

National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Suite 119
Minneapolis, MN 55447-4752
naf@ataxia.org
http://www.ataxia.org
Tel: 763-553-0020
Fax: 763-553-0167

Friedreich's Ataxia Research Alliance (FARA)
P.O. Box 1537
Springfield, VA 22151
fara@CureFA.org
http://www.CureFA.org
Tel: (703) 426-1576
Fax: (703) 425-0643

International Joseph Disease Foundation, Inc.
P.O. Box 994268
Redding, CA 96099-4268
MJD@ijdf.net
Tel: 530-246-4722

WE MOVE (Worldwide Education & Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
wemove@wemove.org
http://www.wemove.org
Tel: 212-875-8312
Fax: 212-875-8389

National Organization for Rare Disorders (NORD) P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Related NINDS Publications and Information

• Friedreich's Ataxia Fact Sheet
  Friedreich's Ataxia fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

• Machado-Joseph Disease Fact Sheet
  Machado-Joseph Disease fact sheet developed by the National Institute of Neurological Disorders and Stroke (NINDS).

• NINDS Olivopontocerebellar Atrophy Information Page
  Olivopontocerebellar Atrophy information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

• NINDS Ataxia Telangiectasia Information Page
  Ataxia telangiectasia (A-T) information page compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

• NINDS Friedreich's Ataxia Information Page
  Information on Freidreich's ataxia, compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

• NINDS Machado-Joseph Disease Information Page
  Machado-Joseph disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

• Study Finds Psychiatric Disorders are Common in People with Cerebellar Degeneration
  September 2002 news summary on a study which found a high rate of psychological problems in patients with cerebellar disorders.

Prepared by: Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.