Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disea se, are a group of neurodegenerative disorders characterised by the accumul ation of an autofluorescent lipopigment in many cell types. Different NCL t ypes are distinguished according to age of onset, clinical phenotype, ultra structural characterisation of the storage material, and chromosomal locati on of the disease gene. At least eight genes underlie the NCLs, of which fo ur have been isolated and mutations characterised: CLN1, CLN2, CLN3, CLN5. Two of these genes encode lysosomal enzymes, and two encode transmembrane p roteins, at least one of which is likely to be in the lysosomal membrane. T he basic defect in the NCLs appears to be associated with lysosomal functio n. Hum Mutat 14:199-215, 1999. (C) 1999 Wiley-Liss, Inc.