by Rick Alan
Batten disease is the most common form of a group of rare disorders known as neuronal ceroid lipofuscinoses (NCLs). Batten disease is an inherited genetic disorder that causes a build-up of lipopigments in the body’s tissue. Batten disease refers to a juvenile form of NCL, but the other forms of NCL can also be referred to as Batten disease. The forms of NCL include:
Batten disease is caused by abnormalities in genes that are involved with the production and use of certain body proteins. The disease results in a build-up of fats and proteins called lipopigments in the cells of the brain, eyes, skin, and other tissues.
Researchers have made progress in identifying the defective enzymes and mutated genes that underlie these disorders, but it is not yet known exactly how the gene mutations cause this build-up of lipopigments.
Since Batten disease is an inherited condition, people at risk include:
Symptoms of Batten disease include the following:
Symptoms of Batten disease are similar in each type of the disease. However, the time of appearance, severity, and rate of progression of symptoms can vary depending on the type of the disease. For example:
Infantile NCL (Santavuori-Haltia disease)—symptoms begin to appear between the ages of six months and two years, and progress rapidly. Children with this type generally live until age five, though some survive in a vegetative state a few years longer.
Late infantile NCL (Jansky-Bielschowsky disease)—symptoms begin to appear between ages 2-4, and progress rapidly. Children with this type usually live until ages 8-12.
Juvenile NCL (Spielmeyer-Vogt-Sjogren-Batten disease)—symptoms begin to appear between ages 5-8, and progress less rapidly. Those afflicted usually live until their late teens or early 20s; and in some cases, into their 30s.
Adult NCL (Kufs disease or Party's disease)—symptoms usually begin to appear before age 40. Symptoms progress slowly and are usually milder. However, this form of the disease usually does shorten a person's life span.
Batten disease is often difficult to diagnose because it is so rare. Vision problems are often the first symptoms. Therefore, an initial diagnosis may result from an eye exam.
Your bodily fluids and tissues may be tested. This can be done with:
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Images may be taken of your bodily structures. This can be done with:
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There is no known treatment that will stop the progression or effects of Batten disease. Therefore, treatment aims to reduce symptoms.
For patients who have seizures, anticonvulsant medications can be given to help control seizures. In addition, physical and/or occupational therapy can help people continue functioning for a longer period of time.
One experimental therapy is supplementation with vitamins C and E combined with a diet low in vitamin A. This may slow the progression of the disease in children; however, there is no evidence that it will stop the progression of the disease. Talk to your doctor before trying this therapy.
There is no known way to prevent Batten disease. If you have Batten disease or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
National Institute of Neurological Disorders and Stroke
NIH Office of Rare Diseases Research
Batten Disease Support and Research Association
Battem disease. Office of Scientific and Health Reports. National Institute of Neurological Disorders and Stroke National Institutes of Health website. June 1992. Available at: http://www.medhelp.org/lib/batten.htm. Updated June 1992. Accessed August 8, 2013.
Batten’s disease: clues to neuronal protein catabolism in lysosomes. J Neurosci Res. Apr 15, 2000.
Batten’s disease: eight genes and still counting. The Lancet. Aug 7, 1999.
Sondhi D, et al. Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch Neurol. Nov 2001;58(11):1793-1798.
Taupin P. HuCNS-SC (StemCells). Curr Opin Mol Ther. Apr 2006;8(2):156-163.
What is Batten disease: Batten Disease Support and Research Association website. Available at: http://www.bdsra.org/what-is-batten-disease/about-batten-disease. Updated August 8, 2013.
Last reviewed August 2013 by Kari Kassir, MD; Michael Woods, MD
Last Updated: 5/11/2013