Batten disease is a severe, inherited disorder of the nervous system. Patients usually develop symptoms between ages 5 and 10, though the earliest symptoms — like behavioral changes or clumsiness — can be subtle.

Batten is the most common of a group of five diseases called neuronal ceroid lipofuscinoses (NCLs).

About Batten disease

Batten disease is caused by the buildup of lipofuscins, insoluble deposits made up of fats and proteins. The name, lipofuscin, comes from the word “lipo,” meaning fat, and “fuscin,” meaning pigment or color because lipofuscin deposits have a characteristic yellow-green color when examined under a microscope.

Normally, lipofuscin compounds would be broken up and digested in a cell compartment called the lysosome, considered the “trash compactor” of the cell because it works to expel or recycle a cell’s waste products.

Mutations in eight genes that encode for lysosomal proteins have been linked to Batten disease. These mutations cause lipofuscins to build up in cells of the brain and eye, as well as muscle, skin, and many other tissues, resulting in cell death.

Symptoms

The symptoms and onset of Batten disease can differ from person to person. The most common first symptom of the disease is loss of vision, followed by seizures. Other signs can be more subtle, especially in the disease’s early stages.

Children may be slow learners or have difficulty balancing or walking. Some children may have personality or behavioral changes, such as becoming aggressive. Ataxia, a loss of muscle control and voluntary movement, with resulting poor balance and tremors or jerky movements may also be present.

Some children develop memory loss, and echolalia (repetitive speech). As the disease progresses, patients may also be prone to hallucinations (seeing or hearing things that are not there) or other signs of psychosis (a loss of touch with reality).

As patients reach their late teens or early twenties, some may begin to have cardiac symptoms, such as an irregular heartbeat and enlarged heart muscle (cardiac hypertrophy).

In later stages of the disease, patients lose the ability to communicate or move, and almost all develop severe dementia.

Batten disease is fatal, and many patients die in their late teens or early twenties. No disease-modifying therapy yet exists for Batten patients.

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