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Diseases

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
More Names
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Overview



What is Batten disease?

What causes Batten disease?


What is Batten disease?

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

What causes Batten disease?

Batten disease results from mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. However, it appears to play a critical role in the survival of nerve cells (neurons) in the brain.[2]

The symptoms of Batten disease are linked to a buildup of substances called lipofuscins (lipopigments) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. The substances are found inside a part of cells called lysosomes. Lysosomes are responsible for getting rid of things that become damaged or are no longer needed and must be cleared from inside the cell.[3]
Last updated: 9/25/2012

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.
  2. Juvenile Batten disease. Genetics Home Reference (GHR). June 2009; http://ghr.nlm.nih.gov/condition/juvenile-batten-disease. Accessed 9/25/2012.
  3. Batten Disease Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 2012; http://www.ninds.nih.gov/disorders/batten/detail_batten.htm. Accessed 9/25/2012.