It is caused by the accumulation of lipopigments in the body due to a deficiency in tripeptidyl peptidase I as a result of a mutation in the TPP1 gene.

[1] This late-infantile form of the disease progresses rapidly once symptoms are onset and ends in death between age 8 and teens.

[5] This accumulation results in atrophy in these regions of the brain, and cause the pathogenesis of signs and symptoms of Jansky–Bielschowsky disease.

The active ingredient in Brineura, cerliponase alpha, is intended to slow loss of walking ability in symptomatic pediatric patients three years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.

Brineura is administered into the cerebrospinal fluid by infusion via a surgically implanted reservoir and catheter in the head (intraventricular access device).