CLN4

CLN4

A pending designation for the neuronal ceroid lipofuscinosis gene which, once discovered, would be linked to Kufs disease (now known to be CLN6).
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Table 4 Participants AMFOR Network Entrepreneurs RP1, RP2, RP3, RP4, RP5, RP6, RP7, RP8, RP9 Suppliers FORN1, FORN2, FORN3, FORN4 Customers CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7 Consultants CONS1, CONS2, CONS3 University UNIV1 Supporting organizations INST1, INST2, INST3, INST4, INST5, INST6 Districts Associations ASSOC1, ASSOC2, ASSOC3, ASSOC4, ASSOC5, ASSOC6, ASSOC7, ASSOC8 Note.
Adult-onset NCL (CLN4) follows either an autosomal recessive (Kufs disease) or an autosomal dominant (Parry disease) pattern of inheritance and is likely to be linked to different, as yet unknown, gene loci.
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.