• Batten Disease

    (Neuronal Ceroid Lipofuscinosis)

    Definition

    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. About 2-4 of every 100,000 births are affected. The forms of NCL include:
    • Infantile NCL
    • Late infantile NCL
    • Juvenile NCL
    • Adult NCL

    Causes

    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.

    Risk Factors

    A risk factor is something that increases your chances of getting a disease or condition. Since Batten disease is an inherited condition, people at risk include:
    • Children of parents with Batten disease
    • Children of parents not afflicted with Batten disease, but who carry the abnormal genes that cause the disease

    Symptoms

    Symptoms of Batten disease include the following:
    • Vision loss (an early sign) and blindness
    • Muscle incoordination
    • Intellectual disability or decreasing mental function
    • Emotional disturbances or difficulties
    • Seizures
    • Muscle spasms
    • Deterioration of muscle tone
    • Movement problems
    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 mid-childhood (about 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.

    Diagnosis

    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. To confirm the diagnosis, tests are taken. These include:
      Testing to look for evidence of build-up of lipopigments:
      • Blood tests
      • Urine tests
      • Tissue biopsies (skin and rectal) examined with an electron microscope
      Skin Biopsy
      Skin proceedure
      Copyright © Nucleus Medical Media, Inc.
      Imaging tests to look for specific brain abnormalities:
      • MRI scan —a test that uses magnetic waves to make pictures of the inside of the body
      • CT scan —a type of x-ray that uses a computer to make pictures of the inside of the body
      • Electroencephalogram (EEG) —a test that records the brain's activity by measuring electrical currents through the brain
      MRI Scan
      MRI of the Brain
      Copyright © Nucleus Medical Media, Inc.
    • Electrical studies of the eyes—to look for vision problems associated with the disease
    • DNA analysis—to look for the abnormalities that may cause this disease

    Treatment

    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 halt the ultimate progression of the disease. Talk to your doctor before trying this therapy.
    Very early trials of stem cell treatment for infantile and late infantile disease are now underway. There is hope that these or other forms of gene therapies may have an effect on the progression of Batten and Jansky-Bielschowsky diseases.

    Prevention

    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.

    RESOURCES

    National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/

    Office of Rare Diseases http://rarediseases.info.nih.gov/

    CANADIAN RESOURCES

    Batten Disease Support and Research Association http://www.bdsra.org/

    Sick Kids http://www.sickkids.ca/

    References

    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 . Accessed August 2003.

    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.

    Batten Disease Support and Research Association website. Available at: http://www.bdsra.org .

    National Library of Medicine website. Available at: http://www.nlm.nih.gov/ .

    Sondhi D, et al. Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch Neurol . Nov 2001;58(11):1793-8.

    Taupin P. HuCNS-SC (StemCells). Curr Opin Mol Ther . Apr 2006;8(2):156-63.

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