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Online ISSN: 1098-1004    Print ISSN: 1059-7794
Human Mutation
Volume 14, Issue 3, 1999. Pages: 199-215

Published Online: 2 Sep 1999

Copyright © 1999 Wiley-Liss, Inc.

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 Mutation Update
Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5
Sara E. Mole *, Hannah M. Mitchison, Patricia B. Munroe
Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, London, United Kingdom
email: Sara E. Mole (s.mole@ucl.ac.uk)

*Correspondence to Sara E. Mole, Department of Paediatrics, Royal Free and University College Medical School, University College London, Gower Street Campus, The Rayne Institute, 5 University Street, London WC1E 6JJ, United Kingdom; Fax: 44-171-209-6103

neuronal ceroid lipofuscinosis; NCL; CLN1; CLN2; CLN3; CLN4; CLN5; CLN6; CLN7; CLN8; Batten disease; neurodegeneration

The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a group of neurodegenerative disorders characterised by the accumulation of an autofluorescent lipopigment in many cell types. Different NCL types are distinguished according to age of onset, clinical phenotype, ultrastructural characterisation of the storage material, and chromosomal location of the disease gene. At least eight genes underlie the NCLs, of which four have been isolated and mutations characterised: CLN1, CLN2, CLN3, CLN5. Two of these genes encode lysosomal enzymes, and two encode transmembrane proteins, at least one of which is likely to be in the lysosomal membrane. The basic defect in the NCLs appears to be associated with lysosomal function. Hum Mutat 14:199-215, 1999. © 1999 Wiley-Liss, Inc.

Received: 12 February 1999; Accepted: 25 May 1999

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