Neuronal ceroid lipofuscinoses

The neuronal ceroid lipofuscinoses (CLN), also referred to as Batten s disease, are a group of disorders characterized by the accumulation of autofluorescent lipopigments. Clinical hallmarks include blindness, seizures, cognitive and motor decline and early death. Age of onset varies from infancy to adulthood. Eight genetic forms have been identified [4]. Two involve lysosomal acid hydrolases. CLN1 codes for palmitoyl protein thioesterase 1. Clinically it presents most often in infancy and leads to loss of active movement and visual contact by 3 years of age. It is most common in Finland, where its incidence is 1 20,000. CLN2 codes for a lysosomal pepstatin-insensitive acid protease. 

AS-C achaete-scute gene complex for sense organs CLN neuronal ceroid lipofuscinoses... 

Neurodegenerative disease The neuronal ceroid lipofuscinoses (Batten disease). 

Neuronal ceroid lipofuscinoses and retinal photoreceptor degeneration wind, (65-67)... 

Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., et al. (1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23, 233-236. 

Wisniewski K.E., Zhong N., Philippart M., Pheno/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 57 (2001) 576-581. 

Peltonen L, Savukoski M, Vesa J. Genetics of the neuronal ceroid lipofuscinoses. Curr Opin Genet Dev 2000 10(3) 299... 

The condition is caused by deficiencies of palmitoyl protein thioesterase 1 (PPTl) (or tripeptidyl peptidase 1 (TPPl) and possibly other enzymes resulting in the same clinical presentation of NCL (for Aeural Ceroid Lipofuscinose)). PPTl cleaves long-chain fatty acids from S-acylated proteins within the lyso-some (Lu et al., 1996). How the loss of this activity causes the death of central nervous system neurons is not known. 

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