Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a group of rare inherited neurological conditions that can cause vision loss, progressive motor and cognitive decline, and seizures.

The disease is thought to affect between 2 and 4 of every 100,000 people living in the U.S., and about 1 in every 100,000 worldwide. It takes its name from the British pediatrician who first described Batten disease in 1903.

Types of Batten disease

There are different types of Batten disease, classified according to age at the onset of symptoms. Disease symptoms can be manifest at birth (congenital), or appear during childhood (infantile, late infantile, and juvenile) or adulthood.

Childhood forms of Batten are the most common, often appearing between the ages of 5 and 10 as vision problems or epilepsy (seizures) — or simply as problems with learning and general clumsiness.

Causes of Batten disease

Batten disease is a genetic condition most commonly inherited in an autosomal recessive manner (two defective gene copies, one from the mother and one from the father), although there are cases of autosomal dominant inheritance in Batten patients whose disease starts in adulthood.

Several genetic mutations have been linked to Batten disease. These mutations all affect the ability of cells to get rid of waste products, leading to a build-up of substances that are toxic to tissues in the body, especially to nerve cells in the brain and cells of the eye, as well as in the skin and other tissues.

Specifically, the disease is linked to the buildup of lipofuscins, made up of fats and proteins, in tissues. These substances are found in the part of a cell called the lysosome; lysosomes are responsible for clearing cells of waste products and damaged products.

Progressive cell damage and death leads to the range of neurological and other symptoms seen in Batten patients.

Symptoms of Batten disease

The symptoms of Batten disease can differ widely among individuals in terms of their appearance and progression, due to the different disease-causing mutations.

In forms that develop early in life, symptoms can begin insidiously as subtle behavior and personality changes, clumsiness, or slow learning. Progressive vision loss, seizures, and loss of motor skills are likely, and these patients often eventually develop Parkinson’s-like movement difficulties, severe dementia. Many become bedridden.

People with the adult forms of Batten disease tend to have milder symptoms and a normal life expectancy.

Diagnosis of Batten disease

An eye examination to look for specific cell deposits that occur in Batten disease may be requested. Blood and urine tests, skin sampling, brain scans, an electroencephalogram (a measurement of electrical brain activity), and other tests to determine abnormal electrical signals in the parts of the brain that control vision may also be performed to aid diagnosis.

Because some forms of Batten disease involve the lack of certain enzymes, enzyme level testing may be needed. Genetic tests for Batten disease-related genes can be done to confirm the diagnosis.

Treatment and prognosis

Currently, no cure exists for Batten disease. But available treatments, such as anti-seizure medications, can help to control disease symptoms, and physiotherapy and occupational therapy can help to maintain patients’ ability to carry out day-to-day activities.

Research is ongoing into ways to possibly treat Batten disease, including gene therapy, enzyme replacement therapy, small molecule carriers, stem cell therapy, and RNA and lysosomal modifiers.

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