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Genetic and Rare Diseases Information Center (GARD)

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Batten disease


Other Names for this Disease

  • Ceroid lipofuscinosis neuronal 3
  • CLN3
  • Juvenile neuronal ceroid lipofuscinosis
  • Neuronal ceroid lipofuscinosis 3
  • Spielmeyer Sjogren disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Batten disease is a neurodegenerative genetic condition characterized by progressive mental and motor deterioration, seizures, and early death. Symptoms of Batten disease typically appear between the ages of four and ten years. Rapid vision loss resulting in total blindness is usually the first symptom observed. Followed by seizures which typically present between ages five and 18 years. Life expectancy generally ranges from the late teens to the 30's. Batten disease is inherited in an autosomal recessive fashion and has been associated with mutations in a gene called the CLN3.  Although a cure has not been identified for Batten disease, treatment for the symptoms is available.[1]
Last updated: 9/24/2012

References

  1. Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. GeneReviews. March 2, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1428/. Accessed 11/29/2012.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Batten disease. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Ceroid lipofuscinosis neuronal 3
  • CLN3
  • Juvenile neuronal ceroid lipofuscinosis
  • Neuronal ceroid lipofuscinosis 3
  • Spielmeyer Sjogren disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.