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 tissues. 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 bodily 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:
Batten disease may cause:
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 with this type 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.
The doctor will ask about any symptoms, and medical and family history. In most cases, the first symptoms involve vision problems. An eye exam may lead to the initial diagnosis.
Other tests may include:
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Imaging tests assess internal structures (like the brain) for abnormalities. These tests may include:
An electroencephalogram (EEG) evaluates the electrical activity of the brain.
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There is no known treatment that will stop the progression or effects of Batten disease. Treatment will depend on the types of symptoms present. The goal is to ease symptoms. Options include:
If there is a high risk of malnutrition or dehydration, a nasogastric tube can be used. It is a long, narrow tube that is placed through the nose and into the stomach. Liquid nutrition, water, and medications can be delivered through the tube.
Other supportive treatments may include:
National Institute of Neurological Disorders and Stroke
NIH Office of Rare Diseases Research
About Kids Health—The Hospital for Sick Children
Batten Disease Support and Research Association
Batten disease fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/batten/detail_batten.htm. Updated September 1, 2015. Accessed March 21, 2016.
Batten’s disease. Gene reviews. Updated August 1, 2013. Accessed March 24, 2016.
Home nasogastric tube feeding. University of Pittsburgh Medical Center website. Available at: http://www.upmc.com/patients-visitors/education/nutrition/Pages/home-nasogastric-tube-feeding.aspx. Accessed March 21, 2016.
How are genetic conditions diagnosed? Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/handbook/consult/diagnosis. Updated March 14, 2016. Accessed March 21, 2016.
Sondhi D, Hackett NR, Apblett RL, Kaminsky SM, Pergolizzi RG, Crystal RG. 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. Accessed March 21, 2016.
Last reviewed March 2016 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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