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:

Series: Contemporary Neurology Series


More Like This

Show all results sharing this subject:

  • Neurology


Show Summary Details


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

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.