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Copyright 1986, 1990, 1994, 1995, 1996, 1998, 2003, 2008
NORD is very grateful to Reuben Matalon, MD, PhD, Professor of Pediatrics, Professor of Biochemistry and Molecular Biology, University of Texas Medical Branch, for assistance in the preparation of this report.
Synonyms of Canavan Disease
- ASPA Deficiency
- Aspartoacylase Deficiency
- Canavan's Leukodystrophy
- Canavan-Van Bogaert-Bertrand Disease
- Spongy Degeneration of the Central Nervous System
- Van Bogaert-Bertrand Syndrome
Disorder Subdivisions
General Discussion
Canavan disease is rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age. Symptoms may include an abnormally large head (macrocephaly), lack of head control, severely diminished muscle tone resulting in “floppiness,” and delays in reaching developmental milestones such as independent sitting and walking. Most affected children develop life-threatening complications by 10 years of age. Canavan disease occurs because of defect affecting the breakdown (metabolism) of the N-acetylaspartic acid. It is inherited as an autosomal recessive trait.
Canavan disease belongs to a group of disorders known as the leukodystrophies. The leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that can affect the brain, spinal cord and often the nerves outside the central nervous system (peripheral nerves). Each type of leukodystrophy is caused by an abnormality affecting a specific gene that results in abnormal development of one of at least 10 different chemicals that make up the white matter of the brain. The white matter is tissue composed of nerve fibers. Many of these nerve fibers are covered by a collection of fats (lipids) and proteins known as myelin. Myelin, which collectively may be referred to as the myelin sheath, protects the nerve fibers, acts as an insulator and increases the speed of transmission of nerve signals. Each type of leukodystrophy affects a different part of the myelin sheath, leading a range of different neurological problems.
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Organizations related to Canavan Disease
- Canavan Foundation
450 West End Avenue, #10C
New York NY 10024
Phone #: 212-873-4640
800 #: 877-422-6282
e-mail: info@canavanfoundation.org
Home page: http://www.canavanfoundation.org
- Canavan Research Foundation
Fieldstone Plaza
88 Rt. 37
New Fairfield CT 06812
Phone #: 203-746-2436
800 #: --
e-mail: info@canavan.org
Home page: http://www.canavan.org
- Canavan Research Illinois
P.O. Box 8194
Rolling Meadows IL 60008-8194
Phone #: 847-222-0736
800 #: 800-833-2194
e-mail: canavan@canavanresearch.org
Home page: http://www.canavanresearch.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: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Jacob’s Cure
PO Box 52
Rye NY 10580
Phone #: 914-673-2796
800 #: N/A
e-mail: info@jacobscure.org
Home page: http://www.jacobscure.org
- Kennedy Krieger Institute
707 North Broadway
Baltimore MD 21205
Phone #: 443-923-9200
800 #: 800-873-3377
e-mail: info@kennedykrieger.org
Home page: http://www.kennedykrieger.org
- MUMS (Mothers United for Moral Support, Inc) 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/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Foundation for Jewish Genetic Diseases
250 Park Avenue
Suite 1000
New York NY 10177
Phone #: 212-659-6774
800 #: --
e-mail: N/A
Home page: http://www.nfjgd.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/
- National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton MA 02135
Phone #: 617-277-4463
800 #: 800-906-8723
e-mail: info@ntsad.org
Home page: http://www.NTSAD.org
- United Leukodystrophy Foundation
2304 Highland Drive
Sycamore IL 60178
Phone #: 815-895-3211
800 #: 800-728-5483
e-mail: office@ulf.org
Home page: http://www.ulf.org/
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