Neuronal ceroid lipofuscinosis

Abstract

Neuronal Ceroid Lipofuscinosis (NCL) is a group of heterogeneous neurodegenerative lysosomal storage diseases (LSDs) that are characterized by a progressive decline of cognitive and motor functions, retinopathy leading to blindness, and myoclonic seizure. Mutation in different genes called ceroid lipofuscinosis neuronal (CLN) lead to various forms of NCL. The disease is collectively also known as Batten disease named after the founder Frederick Batten who identified CLN in 1903. Today, at least 13 genes are known as CLN1 to CLN14. Therapies for NCL remain few due to the complex pathology of the disease, with no exact cause yet to be identified. This chapter summarizes the disease' classification and clinical manifestations, epidemiology, pathophysiology, diagnosis, available treatment options, like intracerebroventricular (ICV) enzyme replacement therapy (ERT), and promising future therapeutic avenues.