CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:682-8 Authors: Kohlschütter A, Schulz A Abstract CLN2 disease is an inherited metabolic storage disorder caused by the deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). The disease affects mainly the brain and the retina and is characterized by progressive dysfunction of the central nervous system, leading to dementia, epilepsy, loss of motor function and blindness. The classical late infantile type begins at around three years of age with epilepsy and/or a standstill of psychomotor development, followed by a rapid loss of all abilities and death in childhood. A late onset form in a small proportion of patients starts at the age of 4 to 10 years, but also leads to severe neurological deterioration. The deficiency of TPP1 causes the lysosomal accumulation of a material called ceroid lipofuscin. The natural substrate of TPP1 is not known, nor is the connection between storage process and neurodegeneration, which is characterized by loss of neurons. Among various experimental approaches to treatment, enzyme replacement therapy (ERT) and gene therapy have developed remarkably. Enzyme delivery through the cerebrospinal fluid led to wide distribution of enzyme activity in the brain and to attenuated neuropathology and disease progression in a TPP1-deficient mouse model as well as in a natural TPP1-deficient do...
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research