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Ataxia, Hereditary, Autosomal Dominant
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"Resources" on this report.
Copyright 1989, 1997, 2004, 2007
NORD is grateful to Thomas Bird, MD, Professor of Neurology and Head of the Division of Neurogenetics, University of Washington, and 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 Ataxia
Disorder Subdivisions
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 WashingtonÂ’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 SCA25. 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.
Until recently, all autosomal dominant ataxias were called MarieÂ’s ataxia and all autosomal recessive ataxias were called FriedreichÂ’s ataxia.
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Organizations related to Ataxia, Hereditary, Autosomal Dominant
- Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street
Suite 110
Montreal
Quebec Intl H1M 1X6
Phone #: (51-4) -321-8684
800 #: --
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: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis MN 55447-4752
Phone #: 763-553-0020
800 #: --
e-mail: naf@ataxia.org
Home page: http://www.ataxia.org
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York NY 10024
Phone #: 212-875-8312
800 #: N/A
e-mail: wemove@wemove.org
Home page: http://www.wemove.org
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