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. 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

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 and blindness
• Muscle incoordination
• Intellectual disability or decreasing mental function after a period of normal development
• 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 6 months-2 years of age and progress rapidly. Children with this type generally live until age 5, though some survive in a vegetative state a few years longer.

Late infantile NCL (Jansky-Bielschowsky disease)—Symptoms begin to appear between 2-4 years of age 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 5-8 years of age 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 40 years of age. 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.

Your bodily fluids and tissues may be tested. This can be done with:

• Blood tests
• Urine tests
• Biopsies

Images may be taken of your bodily structures. This can be done with:

• MRI scan
• CT scan
• Electroencephalogram (EEG)

Treatment

There is no known treatment that will stop the progression or effects of Batten disease. Therefore, treatment aims to reduce symptoms.

For those 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.

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.

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

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

Batten’s disease: Eight genes and still counting. Lancet. 1999;354(9177):443-445.

Sondhi D, et al. Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch Neurol. 2001;58(11):1793-1798.

Taupin P. HuCNS-SC (StemCells). Curr Opin Mol Ther. 2006;8(2):156-163.

What is Batten disease? Batten Disease Support and Research Association website. Available at:
http://bdsra.org/what-is-batten-disease
Updated August 8, 2013.