Chapter

CLN3

L. Åberg, T. Autti, T. Braulke, J.D. Cooper, O.P. van Diggelen, A. Jalanko, S. Kenrick, C. Kitzmüller, A. Kohlschütter, A. Kyttälä, H.M. Mitchison, S.E. Mole, R. Niezen-de Boer, M.-L. Punkari, A. Schulz, M. Talling and R.E. Williams

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/9780199590018.003.0008

Series: Contemporary Neurology Series

CLN3

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This chapter discusses mutations in the CLN3 gene cause CLN3 disease, classic juvenile formerly known as Spielmeyer–Sjögren disease. This is one of the most prevalent types of NCL worldwide, with almost all patients carrying the same disease allele. There is a possibility that mutations in CLN3 also cause other disease phenotypes that are not currently classified with the NCLs, or are not yet recognized. CLN3 encodes a conserved transmembrane protein whose function, to date, is unknown. This chapter covers identification of the CLN3 gene, gene structure, mutations, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  17834 words.  Illustrated.

Subjects: Neurology

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