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"Resources" on this report.
Copyright 1986, 1987, 1988, 1990, 1993, 1996, 1997, 1999, 2006, 2007
NORD is grateful to Sara E. Mole, PhD, of the MRC Laboratory for Molecular Cell Biology, University College London, for assistance in the preparation of this report.
Synonyms of Batten Disease
- CLN3
- JNCL
- Neuronal Ceroid Lipofuscinosis, Juvenile
- Spielmeyer-Sjogren Disease
- Vogt-Spielmeyer Disease
- Vogt-Spielmeyer-Sjogren Disease
Disorder Subdivisions
General Discussion
Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.
The symptoms of Batten disease usually become apparent between 5 and 15 years of age when progressive loss of vision, seizures, and progressive neurological degeneration develop. In some cases, initial symptoms may be more vague and include clumsiness, balance problems and behavioral or personality changes. Batten disease is inherited as an autosomal recessive trait and occurs most in families of Northern European or Scandinavian ancestry and is found worldwide.
For years, the term Batten disease was used to describe the chronic juvenile form of NCL (JNCL). Recently, some researchers have begun using the term Batten disease to encompass all types of neuronal ceroid lipofuscinoses.
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Organizations related to Batten Disease
- Arc
1660 L Street, NW, Suite 301
Washington DC 20036
Phone #: 202-534-3700
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org
- Batten Disease Support and Research Association
166 Humphries Dr
Reynoldsburg OH 43068
Phone #: 740-927-4298
800 #: 800-448-4570
e-mail: bdsra1@bdsra.org
Home page: http://www.bdsra.org
- Beyond Batten Disease Foundation
P.O. Box 200998
Austin TX 78720
Phone #: 512-275-2600
800 #: 877-622-8836
e-mail: info@beyondbatten.org
Home page: http://www.beyondbatten.org
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Children's Brain Diseases Foundation
Parnassus Heights Medical Building
350 Parnassus Avenue, Suite 900
San Francisco CA 94117
Phone #: 415-665-3003
800 #: --
e-mail: jrider6022@aol.com
Home page: N/A
- 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
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- Lysosomal Diseases New Zealand
16 Woodleigh Place
Ohauiti
Tauranga Intl 6008
Phone #: 07 -544--8868
800 #: N/A
e-mail: john.forman@xtra.co.nz
Home page: http://www.ldnz.org.nz
- 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/
- 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
- NCL Resource
c/o Sara E Mole PhD
MRC Laboratory for Molecular Cell Biology
University College London
London None WC1E 6BT
Phone #: 44 -207- 679 7257
800 #: N/A
e-mail: ncl-www@ucl.ac.uk
Home page: http://www.ucl.ac.uk/ncl
- National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02471
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: napvi@perkins.org
Home page: http://www.napvi.org
- National Batten Disease Registry
New York Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Rd
Staten Island NY 10314
Phone #: 718-494-5201
800 #: 800-952-9628
e-mail: BattenKW@aol.com
Home page: N/A
- 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 Pediatric Myoclonus Center
SIU School of Medicine
Dept. of Neurology, Div. of Ped. Neurology
PO Box 19643
Springfield IL 62794-9643
Phone #: 217-545-7635
800 #: --
e-mail: oms@siumed.edu
Home page: http://www.omsusa.org
- 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
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