CLN3-related neuronal ceroid lipofuscinosis (NCL) is an inherited disorder stemming from mutations in the CLN3 gene, leading to progressive brain degeneration and the gradual loss of both cognitive and motor abilities. This condition typically results in blindness and a premature fatality. NCL comprises various forms, primarily distinguished by the responsible gene and the age at which symptoms manifest.
Referred to as Batten disease, CLN3-related NCL represents the juvenile variant of NCL. Symptoms typically commence between the ages of 4 and 10, often starting with vision loss. Children affected by CLN3-related NCL typically experience complete blindness within two to four years from the onset of the disease. Seizures generally emerge between ages 9 and 18, accompanied by a decline in cognitive function between ages 8 and 14. Speech and behavioral difficulties may arise, and some individuals may develop psychiatric issues such as disturbed thoughts, attention problems, and aggression. In the later stages, dementia becomes prevalent. Moreover, individuals with CLN3-related NCL may undergo a decline in motor function, grappling with challenges in controlling their body movements, eventually resulting in the loss of independent mobility.
This form of NCL is caused by pathogenic (disease-causing) variants in the CLN3 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are Batten-Mayou disease, Batten-Spielmeyer-Vogt disease, juvenile Batten disease, juvenile cerebroretinal degeneration, juvenile neuronal ceroid lipofuscinosis, and Spielmeyer-Vogt disease.