C. Aiello, N. Cannelli, J.D. Cooper, M. Haltia, R. Herva, U. Lahtinen, A.-E. Lehesjoki, S.E. Mole, F. M. Santorelli, E. Siintola and A. Simonati

in The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Second edition

Published on behalf of Oxford University Press

Published in print March 2011 | ISBN: 9780199590018
Published online November 2012 | e-ISBN: 9780191753459 | DOI:

Series: Contemporary Neurology Series


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Mutations in the CLN8 gene are responsible for at least two very different clinical entities. The first to be described was northern epilepsy (NE), also known as progressive epilepsy with mental retardation (EPMR) (Hirvasniemi et al., 1994 , Hirvasniemi et al., 1995 ), which is an autosomal recessive childhood epilepsy syndrome seen most often in Finland. Unexpectedly, neuropathological studies established its inclusion as one of the NCLs (Haltia et al., 1999 , Herva et al., 2000) and CLN8 was identified as the causative gene. EPMR can be considered a mutation-specific disease phenotype. Subsequently patients from Turkey with a late infantile variant NCL were identified who also had mutations within the same gene, and many CLN8 mutations have now been found in patients from different ethnic backgrounds. Further investigation of CLN8 may provide valuable genetic and therapeutic information. CLN8 disease should be considered in the differential diagnosis of young children presenting with an otherwise unexplained epileptic encephalopathy. This chapter covers the molecular genetics of the CLN8 gene, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  6158 words.  Illustrated.

Subjects: Neurology

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