J.D. Cooper, S. Partanen, E. Siintola, R. Steinfeld, P. Strömme 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


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Congenital NCL was first reported in the 1940s, and since then a handful of cases have been described in the literature. The first molecular explanation for congenital NCL was given in 2006 when a mutation in the gene encoding cathepsin D was identified in one patient, also proving the recessive inheritance of the disease. Simultaneously, a patient with a later childhood onset cathepsin D deficiency was described, and now cases with onset as late as adulthood are known. Thus, complete lack of cathepsin D and its enzymatic activity causes the congenital form of NCL, whereas a partial inactivation of the enzyme leads to a later-onset form of NCL. Cathepsin D deficiency should therefore be considered as a diagnosis in convulsing newborns with microcephaly, as well as in patients with later-onset forms of NCL characterized by visual impairment,ataxia, and cognitive decline. This chapter covers the molecular genetics of the CLN10 gene, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy.

Chapter.  5628 words.  Illustrated.

Subjects: Neurology

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