Chapter

CLN2

M. Chang, J.D. Cooper, B.L. Davidson, O.P. van Diggelen, M. Elleder, H.H. Goebel, A.A. Golabek, E. Kida, A. Kohlschütter, P. Lobel, S.E. Mole, A. Schulz, D.E. Sleat, M. Warburton and K.E. Wisniewski

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/9780199590018.003.0007

Series: Contemporary Neurology Series

CLN2

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This chapter discusses mutations in the CLN2 or TPP1 gene cause classic CLN2 disease, late infantile, formerly known as Janský–Bielschowsky disease. CLN2 encodes an enzyme, tripeptidyl peptidase I (TPP-I or TPP1), making it particularly suitable for current therapeutic development. Many other NCL types have onset in late infancy — these are known as variant late infantile NCL diseases and are caused by mutations in other genes ( CLN5 , CLN6 , CLN7/MFSD8 , CLN8 ). This chapter covers identification of the CLN2 gene, gene structure, mutations, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  15731 words.  Illustrated.

Subjects: Neurology

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