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neuronal ceroid lipofuscinoses

Tuesday 6 September 2005

Definition: The neuronal ceroid lipofuscinoses (CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in the brain and other tissues and in different patterns ultrastructurally.

Several different forms have been described according to age of onset. The adult form (Kufs disease) is distinguished clinically by onset of symptoms in adulthood and by absence of ocular involvement.

Types

- neuronal ceroid lipofuscinosis type 1 (CLN1) at 1p32 (MIM.256730)
- neuronal ceroid lipofuscinosis type 2 (CLN2) at 11p15 (MIM.204500)
- neuronal ceroid lipofuscinosis type 3 (CLN3) at 16p12 (MIM.204200)
- neuronal ceroid lipofuscinosis type 4A (CLN4A) (MIM.204300)
- neuronal ceroid lipofuscinosis type 4B (CLN4B) (MIM.162350)
- neuronal ceroid lipofuscinosis type 5 (CLN5) at 13q (MIM.256731)
- neuronal ceroid lipofuscinosis type 6 (CLN6) at 15q21 (MIM.601780)
- neuronal ceroid lipofuscinosis type 7 (CLN7) at 4q28 (late infantile-onset) (MFSD8 mutations)
- neuronal ceroid lipofuscinosis type 8 (CLN8) at 8pter (MIM.600143)
- neuronal ceroid lipofuscinosis type 9 (CLN9) (MIM.609055)
- neuronal ceroid lipofuscinosis type 10 (CLN10) at 11p15 (MIM.610127)

Reviews

- Vesa J, Peltonen L. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. Curr Mol Med. 2002 Aug;2(5):439-44. PMID: 12125809

- Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). Curr Mol Med. 2002 Aug;2(5):423-37. PMID: 12125808