CLN3-related neuronal ceroid lipofuscinosis

What Is CLN3-Related Neuronal Ceroid Lipofuscinosis?

CLN3-related neuronal ceroid lipofuscinosis (NCL) is an inherited condition caused by mutations in the CLN3 gene which cause degeneration of the brain leading to a progressive loss of mental and motor skills. It typically causes blindness and leads to an early death. There are several forms of NCL which are largely differentiated by the gene responsible and the age at which symptoms begin. CLN3-related NCL, also known as Batten disease, is the juvenile form of NCL.

Symptoms of Batten disease typically begin between the ages of 4 and 10, often with a loss of vision. Children with CLN3-related NCL usually become completely blind within two to four years of disease onset. Most develop periodic seizures between the ages of 9 and 18, with mental functions declining between the ages of 8 and 14. They may also have speech and behavioral problems, and some individuals with the condition develop psychiatric issues, including disturbed thoughts, attention difficulties, and aggression. Dementia typically develops in the later stages of the disease.

Individuals with CLN3-related NCL may also experience a decline in motor function and have difficulty controlling their body movements. Eventually, individuals will be unable to move independently.

How Common Is CLN3-Related Neuronal Ceroid Lipofuscinosis?

CLN3-related NCL is most common in Finland, Sweden, and other parts of northern Europe, but the condition has been observed worldwide. The worldwide prevalence of all forms of NCL is estimated to be approximately 1 in 100,000. However, the exact proportion of NCL cases that are caused by mutations in the CLN3 gene is unknown.

How Is CLN3-Related Neuronal Ceroid Lipofuscinosis Treated?

There is no treatment for the underlying cause of CLN3-related NCL. Available treatments address the symptoms of the condition as they arise. Various medications may be useful for improving seizures, movement problems, sleep difficulties, mood disorders, excessive drooling, and digestive problems.

What Is the Prognosis for an Individual with CLN3-Related Neuronal Ceroid Lipofuscinosis?

CLN3-related NCL causes blindness and a progressive loss of mental and motor function. Death usually occurs in the late teens or twenties, although some individuals with the disease have lived into their thirties.