Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Batten Disease


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.

    Organizations related to Batten Disease
    • Batten Disease Support and Research Association
      166 Humphries Dr
      Reynoldsburg OH 43068
      Phone #: 740-927-4298
      800 #: 800-448-4570
      e-mail: bdsra1@bdsra.com
      Home page: http//www.bdsra.org
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Children's Brain Diseases Foundation
      350 Parnassus Avenue
      San Francisco CA 94117
      Phone #: 415-665-3003
      800 #: --
      e-mail: Jrider6022@aol.com
      Home page: N/A
    • Hide & Seek Foundation for Lysosomal Disease Research
      4123 Lankershim Blvd.
      North Hollywood CA 91602-2828
      Phone #: 818-762-8621
      800 #: N/A
      e-mail: info@hideandseek.org
      Home page: http://www.hideandseek.org
    • Lysosomal Diseases New Zealand
      125 Cuba St
      Lower Hutt City Intl 6008
      Phone #: 64 -4 5-66 7707
      800 #: N/A
      e-mail: john.forman@xtra.co.nz
      Home page: http://www.ldnz.org.nz
    • 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
    • National Association for Parents of Children with Visual Impairments (NAPVI)
      P.O. Box 317
      Watertown MA 02472
      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
      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)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • National Pediatric Myoclonus Center
      SIU School of Medicine
      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
      Brighton MA 02135
      Phone #: 617-277-4463
      800 #: 800-906-8723
      e-mail: info@ntsad.org
      Home page: http://www.NTSAD.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/



    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