CLN8Ceroid Lipofuscinosis, Neuronal 8
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The neuronal ceroid lipofuscinoses in human EPMR and rand mutant mice are associated with mutations in CLN8. Nat Genet.
Neuronal ceroid lipofuscinoses constitute a group of at least eight inherited, progressive encephalopathies that are characterized by lipofuscin-like inclusions in various tissues and that have recently been classified as CLN1 to CLN8 according to their genetic defects (1).
Five genes (CLN1, CLN2, CLN3, CLN5, and CLN8) have been identified that are mutated in different forms of NCL: respectively, infantile NCL (1); late infantile NCL (2,3); classical juvenile NCL (4-6); Finnish variant late infantile NCL (7); and the progressive epilepsy with mental retardation (EPMR, also called Northern epilepsy) (8).
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative diseases that include infantile NCL (INCL; OMIM 256730, where the defective gene is CLN1), classical late infantile NCL (LINCL; OMIM 204500, where the defective gene is CLN2), two variant late infantile NCLs (OMIM 256731, where the defective gene is CLN5; and OMIM 601780, where the defective gene is CLN6), juvenile NCL (JNCL; OMIM 204200; defective gene, CLN3), a juvenile onset epilepsy with progressive mental retardation (EPMR; OMIM 600143; defective gene, CLN8), and adult NCL (Kufs disease; OMIM 204300; defective gene, CLN4) [reviewed in Ref.