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, ...
