Rare Diseases

Current bibliography for experts

CLN2

CLN2 (Neuronal ceroid lipofuscinosis type 2) disease, is an autosomal recessive inherited neurodegenerative lysosomal storage disorder. It is caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, which causes progressive deterioration of neurological functioning in children aged 2–4 years and results in early death.