Genetic Disorders

Batten disease overview Batten disease, referred to as Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases and a debilitating autosomal recessive neurodegenerative lysosomal storage disorder caused by cellular accumulation of abnormal auto-fluorescent lipoproteins lipofuscin. Patients with Batten disease have defects in the involved process of lipofuscin break down. It accumulates the inner cells in lysosomes and thereby leads to the deterioration of neurons in both brain and retina. There are 14 different forms of Batten disease, which are numerically abbreviated as CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9 and CLN10, CLN11, CLN12, ...