Chapter

CLN5

L. Åberg, T. Autti, J.D. Cooper, M. Elleder, M. Haltia, A. Jalanko, C. Kitzmüller, O. Kopra, S.E. Mole, A. Nuutila, L. Peltonen, M.-L. Punkari, J. Rapola and J. Tyynelä

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: http://dx.doi.org/10.1093/med/9780199590018.003.0009

Series: Contemporary Neurology Series

CLN5

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A variant of late infantile NCL was first recognized as a distinct genetic and clinical entity in Finland, and the gene, CLN5 , identified in 1998. Subsequently, other cases of CLN5 disease, late infantile variant, were described outside Finland, as well as other late infantile variants that were caused by mutations in different genes. This chapter covers isolation of the CLN5 gene, mutations, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  8519 words.  Illustrated.

Subjects: Neurology

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