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Eur J Paediatr Neurol. 2001;5 Suppl A:7-10.

New mutations in the neuronal ceroid lipofuscinosis genes.

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  • 1Department of Paediatrics and Child Health, University College London, Rayne Institute, 5 University Street, London WC1E 6JJ, UK.


Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (

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