A range of progressive neurological disorders primarily affecting children, caused by lysosomal storage defects. Neuronal ceroid lipofuscinosis-1 (CLN1) is caused by mutation in the gene encoding palmitoyl-protein thioesterase-1. CLN2 is caused by mutation in a lysosomal tripeptidyl peptidase (EC 220.127.116.11), CLN3 by mutation in battenin (see Batten's disease), CLN5 by mutation in the CLN5 gene encoding a soluble lysosomal glycoprotein, CLN6 by mutation in the CLN6 gene which encodes a voltage-gated potassium channel in the brain, CLN7 by mutation in major facilitator superfamily domain-containing protein-8, CLN8 by mutations in the CLN8 gene which encodes an ER-resident protein, CLN10 by mutations in cathepsin D. CLN4 and CLN9 have unknown mutations. Despite many causative genes being known, the basis for the pathology is unclear.
Subjects: Medicine and Health.