T. Autti, J.D. Cooper, O.P. van Diggelen, M. Haltia, A. Jalanko, C. Kitzmüller, O. Kopra, T. Lönnqvist, A. Lyly, S.E. Mole, J. Rapola and S.-L. Vanhanen

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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This chapter discusses CLN1 disease, infantile, formerly known as infantile NCL (INCL) or Santavuori–Haltia disease, as well as CLN1 disease with later ages of onset. CLN1 encodes an enzyme, palmitoyl protein thioesterase 1, making it suitable for current therapeutic development. Few other NCL types have onset in infancy. This chapter covers identification of the CLN1 gene, gene structure, mutations, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  14375 words.  Illustrated.

Subjects: Neurology

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