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, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton, MA 02135
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Internet: http://www.NTSAD.org

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
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)927-4298
Fax: (740)927-4298
Tel: (800)448-4570
Email: bdsra1@bdsra.org
Internet: http://www.bdsra.org

Children's Brain Diseases Foundation
Parnassus Heights Medical Building
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 02472
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Internet: http://www.napvi.org

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: 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
USA
Tel: (217)545-7635
Fax: (217)545-1903
Email: oms@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, Intl 6008
New Zealand
Tel: 07 544-8868
Email: john.forman@xtra.co.nz
Internet: http://www.ldnz.org.nz

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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
London, WC1E 6BT
UK
Tel: 44 207 679 7257
Fax: 44 207 679 7805
Email: ncl-www@ucl.ac.uk
Internet: http//:www.ucl.ac.uk/ncl

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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