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Ataxia, Hereditary, Autosomal Dominant

Abstract

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NORD is very grateful to Thomas Bird, MD, Professor of Neurology, Head of the Division of Neurogenetics, University of Washington; Research Neurologist, Seattle VA Medical Center, for assistance in the preparation of this report.

Synonyms of Ataxia, Hereditary, Autosomal Dominant

dentato-rubro-pallido-luysian atrophy
episodic ataxia
progressive cerebellar ataxia, familial
SCA
spinocerebellar staxia

Disorder Subdivisions

Marie's ataxia

General Discussion

The hereditary ataxias are a group of neurological disorders (ataxias) of varying degrees of rarity that are inherited, in contrast to a related group of neurological disorders that are acquired through accidents, injuries, or other external agents. The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) accompanied often by poor eye-hand coordination and abnormal speech (dysarthria). Hereditary ataxia in one or another of its forms may present at almost any time between infancy and adulthood.

The classification of hereditary ataxias is complex with several schools of thought vying for recognition. This report follows the classification presented by Dr. Thomas D. Bird and the University of Washington's GeneReviews.

This classification is based on the pattern of inheritance or mode of genetic transmission of the disorder: i.e., autosomal dominant, autosomal recessive and X-linked. The autosomal dominant ataxias, also called the spinocerebellar ataxias, are usually identified as SCA1 through SCA31. Also included are several "episodic ataxias", as well as a very rare disorder known as DRPLA (dentato-rubro-pallido-luysian atrophy). This report deals with the autosomal dominant hereditary ataxias. There are fewer autosomal recessive hereditary ataxias than autosomal dominant hereditary ataxias, and X-linked forms of ataxia are very rare.

At one time, all autosomal dominant ataxias were called Marie's ataxia and all autosomal recessive ataxias were called Friedreich's ataxia. This is no longer appropriate because there is now much more accurate information about these diseases.

Organizations related to Ataxia, Hereditary, Autosomal Dominant

Canadian Association for Familial Ataxias - Claude St-Jean Foundation
- 3800 Radisson Street Office 110
- Montreal
- Quebec, H1M 1X6 Canada
- Phone #: 514-321-8684
- 800 #: 855-321-8684
- e-mail: ataxie@lacaf.org
- Home page: http://www.lacaf.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone #: 301-251-4925
- 800 #: 888-205-2311
- e-mail: N/A
- Home page: http://rarediseases.info.nih.gov/GARD/
Movement Disorder Society
- 555 E. Wells Street
- Suite 1100
- Milwaukee, WI 53202-3823
- Phone #: 414-276-2145
- 800 #: N/A
- e-mail: info@movementdisorders.org
- Home page: http://www.movementdisorders.org
MUMS National Parent-to-Parent Network
- 150 Custer Court
- Green Bay, WI 54301-1243 USA
- Phone #: N/A
- 800 #: N/A
- e-mail: mums@netnet.net
- Home page: http://www.netnet.net/mums/
National Ataxia Foundation
- 2600 Fernbrook Lane Suite 119
- Minneapolis, MN 55447 USA
- Phone #: 763-553-0020
- 800 #: --
- e-mail: naf@ataxia.org
- Home page: http://www.ataxia.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Phone #: 301-496-5751
- 800 #: 800-352-9424
- e-mail: N/A
- Home page: http://www.ninds.nih.gov/
WE MOVE (Worldwide Education and Awareness for Movement Disorders)
- 5731 Mosholu Avenue
- Bronx, NY 10471 USA
- Phone #: 347-843-6132
- 800 #: N/A
- e-mail: wemove@wemove.org
- Home page: http://www.wemove.org

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