What is Batten disease?

Quick Answer
A progressive neurological disruption and deterioration of intellectual and physical development caused by mutated genes.
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Causes and Symptoms

An umbrella term for neuronal ceroid lipofuscinoses (NCLs), Batten disease occurs in four types that are distinguished by the patient’s age when symptoms first appear. Batten disease is associated with defective genes and usually is transmitted as a recessive trait. The prevalence of this disease in the United States is approximately 1 per 25,000 births. Variations of the disease share similar symptoms associated with lipopigment accumulation in tissues. These excess proteins and fats disrupt cellular functioning, particularly in the brain and eyes. Abnormal enzyme activity alters metabolism and body chemistry.

Infantile type, sometimes referred to as Finnish or Santavouri-Haltia type, usually is evident when children are between six months and two years old. A defective palmitoyl protein thioesterase (PPT) gene on chromosome 1 causes this type of Batten disease. The patient’s physical and mental development and growth, particularly head size, cease to follow normal patterns. Most patients with this type die by age six.

Children with late infantile type, or Jansky-Bielchowsky type, seem normal until two to four years of age. They then suffer seizures, sight impairment, and diminished motor skills and intellect. Death often occurs by age twelve. This type is linked to the ceroid-lipofuscinosis, neuronal 2 (CLN2) gene on chromosome 11.

Juvenile NCL, or Spielmeyer-Vogt, type appears in children at approximately five to ten years of age. The ceroid-lipofuscinosis, neuronal 3 (CLN3) gene on chromosome 16 is associated with this type. Symptoms occur at a slower rate than with the first two types. Patients sometimes become paralyzed.

Kufs or Parry disease is the rare adult type of Batten disease. Sometimes this type is inherited as a dominant disease, and people with one defective gene are affected. Unlike with other types, adult patients do not have convulsions or impaired eyesight. Behavioral extremes and unbalanced movement characterize this type. Progressive mania can result in dementia.

Physicians diagnose Batten disease by studying the patient’s skin tissues for lipopigment deposits. An eye examination may reveal the cell depletion associated with Batten disease. Additional tests, imaging, X-rays, and electroencephalograms can verify the diagnosis.

Treatment and Therapy

Because Batten disease cannot be prevented or cured, treatment focuses on the alleviation of symptoms. Physicians prescribe medications to prevent seizures and to minimize motor difficulties and loss of balance. Nutritional strategies and various therapies can also ease symptoms. Sometimes, patients need to be institutionalized as a result of their mental and visual incapacities.

Perspective and Prospects

Christian Stengel’s 1826 medical article is credited as the first clinical report of patients with Batten disease symptoms. Frederick E. Batten observed several types of this disease in patients in 1903, differentiating it from Tay-Sachs disease. Karl Sjögren initiated genetic investigations. By the 1990s, researchers linked specific genes to Batten disease.

The Batten Disease Support and Research Association distributes information, while the National Batten Disease Registry and designated tissue banks compile data.

Bibliography:

Alan, Rick, and Kari Kassir. "Batten Disease." Health Library, Nov. 26, 2012.

"Batten Disease Fact Sheet." National Institute of Neurological Disorders and Stroke, Oct. 18, 2012.

Batten Disease Support and Research Association.

"Juvenile Batten Disease." Genetics Home Reference, May 6, 2013.

Mole, Sara E. “Batten’s Disease: Eight Genes and Still Counting?” The Lancet 354, no. 9177 (August 7, 1999): 443–445.

Opitz, John M., ed. Ceroid-Lipofuscinoses: Batten Disease and Allied Disorders. New York: A. R. Liss, 1988.

U.S. Department of Health and Human Services. Public Health Service. National Institutes of Health. Batten Disease. Bethesda, Md.: Author, 1992.

Wisniewski, Krystyna E., and Nanbert Zhong, eds. Batten Disease: Diagnosis, Treatment, and Research. San Diego, Calif.: Academic Press, 2001.

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