Other names: Classic Late Infantile Neuronal Ceroid Lipofuscinosis; CLN2 Disease; Late-Infantile Batten Disease; Neuronal Ceroid Lipofuscinosis Type 2

CLN2 disease is an inherited disorder caused by a mutation on the CLN2 gene which results in a reduced activity of a lysosomal enzyme called tripeptidyl peptidase 1 (TPP1). The effect of decreased activity of the enzyme TPP1 is that proteins and lipid storage in nerves and other cells is abnormal and therefore cells are unable to function properly resulting in the development of symptoms. Signs and symptoms of the disease usually begin between 2 years old and 4 years old with the first symptom often being seizures, progressing to problems with walking and speech, then as the disease advances the patient becomes increasingly dependent on families for all of their daily needs.

Drugs used to treat Neuronal Ceroid Lipofuscinosis