Batten Disease

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Batten Disease is not the name you expected.

Disorder Subdivisions

  • None

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.

Supporting Organizations

Batten Disease Support and Research Association

1175 Dublin Road.
Columbus, OH 43215
USA
Tel: (866)648-8718
Email: bdsra1@bdsra.org
Website: http://www.bdsra.org

Beyond Batten Disease Foundation

PO Box 50221
Austin, TX 78763
Tel: 512-275-2600
Fax: 512-637-6333
Tel: 1-877-6BATTEN
Email: info@beyondbatten.org
Website: http://www.beyondbatten.org

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Children's Brain Diseases Foundation

350 Parnassus Avenue
Suite 900
San Francisco, CA 94117
USA
Tel: (415)665-3003
Fax: (415)665-3003
Email: jrider6022@aol.com

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Website: http://www.hideandseek.org

Lysosomal Diseases New Zealand

167 Hollister Lane
Ohauiti
Tauranga, 6008
New Zealand
Tel: 75448868
Email: jenny.noble@xtra.co.nz
Website: http://www.ldnz.org.nz

NCL Resource

c/o Sara E Mole PhD
MRC Laboratory for Molecular Cell Biology
London, WC1E 6BT
United Kingdom
Tel: 442076797257
Email: ncl-www@ucl.ac.uk
Website: http://www.ucl.ac.uk/ncl

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317
Watertown, MA 02272-0317
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Website: 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
USA
Tel: (718)494-5201
Fax: (718)982-6346
Tel: (800)952-9628
Email: BattenKW@aol.com

National Pediatric Neuroinflammation Organization, Inc.

12001 Research Parkway
Suite 236
Orlando, FL 32826
Tel: 877 359 8599
Fax: 877 369 8488
Email: omsusa@omsusa.org
Website: http://www.omsusa.org

National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street
204
Brookline, MA 02146-4227
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Website: http://www.NTSAD.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  9/23/2007
Copyright  2007 National Organization for Rare Disorders, Inc.