Neuronal ceroid lipofuscidosis type 2

Neuronal ceroid lipofuscidosis type 2 (CLN2) is an autosomal recessive, neurodegenerative brain disease, belongs to the group of neuronal ceroid lipofuscinoses (NCL) and is a form of Batten disease. It includes a heterogeneous group of lysosomal storage diseases and typically affects children.

The disease manifests at the age of 2 to 4 years by strong seizures, which precedes a linguistic developmental disorder. Already at the age of 6 years the children lose their language and running ability. Other symptoms include motor failure, movement disorders, blindness and dementia. The affected children usually die between the ages of 8 and 12 years.

The cause is a mutation of the TPP1 gene, resulting in insufficient activity of the enzyme tripeptidyl-peptidase-1. The enzyme is responsible for the degradation of lysosomal storage materials, which now accumulate in many organs, especially the brain and the retina. This accumulation of storage substances in the cells of the nervous system are responsible for the rapidly progressing, unstoppable neurodegeneration. This leads to the loss of all cognitive, motor and visual abilities.