Table 2

Genes implicated in neuronal ceroid lipofuscinoses (NCL)  

NCL typeInheritanceGene locationGeneGene productReferences
InfantileAR1p32CLN1Palmitoyl protein thioesterase (PPT) 33
Classic late infantileAR11p15CLN2Lysosomal pepstatin insensitive protease 34
Finnish late infantileAR13q21–32CLN5Novel membrane protein 35
Variant late infantileAR15q21–23CLN6Unknown 36
Turkish variant late infantileARUnassignedCLN7Unknown 37
Late infantile with GRODsAR1p32CLN1PPT 38
JuvenileAR16p12CLN3Novel membrane protein 39
Variant juvenile with GRODsAR1p32CLN1PPT 40
Progressive epilepsy with mental retardationAR8p23CLN8Novel membrane protein 41
  • GROD, granular osmiophilic deposits.