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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
More Names
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Your Question

Are there any exogenous (outside) factors that cause or worsen Batten disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1]

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.[2]
Last updated: 9/25/2012

Are there any exogenous (outside) factors that cause or worsen Batten disease?

Carbamazepine and phenytoin may increase seizure activity in individuals with Batten disease and other types of neuronal ceroid lipofuscinoses (NCLs). In some cases, these medications have been associated with worsening of symptoms. In one study of individuals with Batten disease, valproic acid and clonazepam were noted to have severe side effects. More specifically, 50 percent of individuals receiving valproic acid had sleep disturbances or excessive sedation and clonazepam seemed to stimulate salivation and respiratory secretions, increasing the risk of pneumonia in bedridden individuals. In addition, clonazepam, a sedative, may sometimes cause behavior disturbances.[3]
Last updated: 9/25/2012