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Batten Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Batten Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • CLN3
  • JNCL
  • Neuronal Ceroid Lipofuscinosis, Juvenile
  • Spielmeyer-Sjogren Disease
  • Vogt-Spielmeyer Disease
  • Vogt-Spielmeyer-Sjogren Disease

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.

Resources

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

Internet: http://www.CLIMB.org.uk



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

Internet: 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

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



Batten Disease Support and Research Association

166 Humphries Dr

Reynoldsburg, OH 43068

USA

Tel: (740)304-0356

Fax: (866)648-8718

Tel: (800)448-4570

Email: bdsra1@bdsra.org

Internet: http://www.bdsra.org



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



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

Internet: http://www.napvi.org



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

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



National Pediatric Myoclonus Center

P.O. Box 19643

Springfield, IL 62794-9643

USA

Tel: (217)545-7635

Fax: (217)545-1903

Email: omsusa@siumed.edu

Internet: http://www.omsusa.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



Lysosomal Diseases New Zealand

16 Woodleigh Place

Ohauiti

Tauranga, 6008

New Zealand

Tel: 075448868

Email: jenny.noble@xtra.co.nz

Internet: http://www.ldnz.org.nz



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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



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

Internet: http://www.hideandseek.org



NCL Resource

c/o Sara E Mole PhD

MRC Laboratory for Molecular Cell Biology

University College London

Gower Street

London, WC1E 6BT

United Kingdom

Tel: 442076797257

Email: ncl-www@ucl.ac.uk

Internet: http://www.ucl.ac.uk/ncl



Beyond Batten Disease Foundation

P.O. Box 200998

Austin, TX 78720

Tel: (512)275-2600

Fax: (512)835-4687

Tel: (877)622-8836

Email: info@beyondbatten.org

Internet: http://www.beyondbatten.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/23/2007

Copyright  1986, 1987, 1988, 1990, 1993, 1996, 1997, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.

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