Disease pattern

The Neuronal Ceroid Lipofuscinoses (NCL) are the most common, neurodegenerative diseases in childhood. They are inherited in an autosomal, recessive way. Affected children show a destruction of neurons that implicates blindness, mental degradation, kinetic dysfunctions, seizure disorders and death ahead of time.

Common to all NCL forms is the accumulation of autofluorescent, modified lipoproteins (ceroids) in lysosomes. The diagnosis of NCL results from these deposits.
Still it is not resolved if these deposits are directly responsible for the destruction of the neurons or if they are merely bystander effects.
The juvenile NCL (Batten disease) features an incidence of 1:25.000-1:40.000, whereas the first symptoms develop in the age from 5 to 8. The cause is an error in a DNA-segment of chromosome 16. The affected section (CLN3-gene) is already identified.

First of all the susceptible eyes are concerned by this defect. Shortly after, parts of the brain are afflicted. Thus natural, human functions as thinking, acting and feeling are omitted bit by bit. In the end the life-supporting functions cannot be sustained. The children die.

	Size 1:1
Brain of a healthy child		Brain of a NCL child