Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.

ABSTRACT: The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal storage disorders caused by mutations in at least 13 different genes and primarily affect the brain and the retina of children or young adults. The disorders are characterized by progressive neurological deterioration with dementia, epilepsy, loss of vision, motor disturbances, and early death. While various therapeutic strategies are currently being explored as treatment options for these fatal disorders, there is presently only one clinically approved drug that has been shown to effectively attenuate the progression of a specific form of neuronal ceroid lipofuscinosis, CLN2 disease (cerliponase alfa, a lysosomal enzyme infused into the brain ventricles of patients with CLN2 disease). Therapeutic approaches

SUBMITTER: Kohlschutter A 

PROVIDER: S-EPMC6440934 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature