NCLs are a family of diseases that are inherited in an autosomal recessive manner. Collectively referred to as<unk> , NCLs are responsible for most paediatric neurodegenerative diseases. The specific type of NCL is characterized by the age of symptomatic onset and genetic mutation involved. Currently, mutations in ten genes are believed to lead to the development of<unk> ; 'the incidence is as high as one in 12,500 live births'. autosomal recessive pattern of inheritance.|255x255px NCL diseases * Infantile neuronal ceroid (INCL): CLN1 encodes for the protein PPT1 which functions as a lysosomal enzyme. * Late infantile NCL (LINCL): CLN2 encodes for the protein TPP1 which serves as a lysosomal enzyme. Life expectancy is between eight and twelve years of age. * Juvenile NCL (JNCL): CLN3 encodes for CLN3, a lysosomal transmembrane protein. * Adult NCL: CLN4 has no known associated protein. * Finnish variant of late infantile NCL (fLINCL): CLN5 encodes for CLN5, a soluble lysosomal protein. * Variant of the late infantile NCL: CLN6 encodes for the protein CLN6, which serves as a transmembrane protein of the endoplasmic reticulum. * Turkish variant of late infantile NCL: CLN7 or MFSD8, encodes for MFSD8, which functions as a lysosomal transmembrane protein. * Northern epilepsy: CLN8 encodes for CLN8, a transmembrane protein of the endoplasmic reticulum. * Late infantile NCL: CLN10 or CTSD encodes for CTSD, which is a lysosomal protein which a variety of functions. * Infantile osteopetrosis: CLCN7 encodes for CLCN7. Juvenile NCL: CLN3 mutation The CLN3 gene is located on the short arm of chromosome 16 at gene position 12.1 (16p12.1), and mutations within this gene are the major cause of juvenile NCL. More specifically, 73% of<unk>  cases are due to a 1.02-kb deletion within this gene, CLN3, which causes a frameshift which produces a truncated mutant gene product of only 181 amino acids in length when compared to the wild-type gene product of 438 amino acids in length. Normal-functioning CLN3 encodes for a hydrophobic transmembrane protein that is mainly localized to the lysosome; however, the 181 amino acid mutant gene product was instead found to primarily localize to the endoplasmic reticulum and Golgi apparatus. The precise function of the CLN3 gene product remains unknown.
Batten disease
Keshan disease
Akureyri disease
Krabbe disease
Farber disease
Karak syndrome
Sandhoff disease
Menkes disease