CLN3-related neuronal ceroid lipofuscinosis

What is CLN3-related Neuronal Ceroid Lipofuscinosis?

CLN3-related neuronal ceroid lipofuscinosis (also known as Batten disease) is an inherited disease that causes degeneration of the brain leading to a progressive loss of mental and motor skills. It typically causes blindness and leads to an early death.

Batten disease is the juvenile form of a disease known as neuronal ceroid lipofuscinosis (NCL). It is also known as Spielmeyer-Vogt-Sjogren-Batten disease. (Some physicians use the term "Batten disease" to describe any form of NCL, but here we use it to refer only to the juvenile form.)

Symptoms of Batten disease begin between the ages of 4 and 10, typically with a loss of vision. These children typically become completely blind within 2 to 4 years.

People with Batten disease often develop periodic seizures between the ages of 9 and 18. Between the ages of 8 and 14, mental functions typically decline. The child may have speech difficulty and behavioral problems. Some people with Batten disease also develop psychiatric problems including disturbed thoughts, attention problems, and aggression. They will eventually progress to dementia.

People with Batten disease also show a decline in motor function and may have difficulty controlling their own movement. Eventually people with Batten disease will be bedridden.

How common is CLN3-related Neuronal Ceroid Lipofuscinosis?

An estimated 2 to 4 in 100,000 births in the United States are affected by some form of NCL. Batten disease is most common in Finland, Sweden, and other parts of northern Europe, but has been seen worldwide.

How is CLN3-related Neuronal Ceroid Lipofuscinosis treated?

There is no treatment for the underlying cause of Batten disease. Treatments can only address the symptoms as they arise. Various medications can be useful for treating seizures, poor muscle tone, sleep disorders, mood disorders, excessive drooling, and digestion.

What is the prognosis for a person with CLN3-related Neuronal Ceroid Lipofuscinosis?

Batten disease causes blindness and a progressive loss of mental and motor function. Death usually occurs between the late teens and 20s. Some people with the disease have lived into their 30s.