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Intracellular Protein Catabolism pp 129–136Cite as

The Neuronal Ceroid Lipofuscinoses (Batten Disease)

A Group Of Lysosomal Proteinoses

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 389))

Abstract

The neuronal ceroid lipofuscinoses (NCL), also called Batten disease, are a group of neurodegenerative lysosomal storage diseases affecting humans and other animals. They are inherited as autosomal recessive traits. Affected children start life normally and then develop increasing dementia, blindness and seizures, culminating in premature death. There are three major forms of human NCL, the infantile form (INCL or CLN1) which occurs most frequently in Finland, and the late infantile (LINCL or CLN2) and juvenile (JNCL or CLN3) forms which occur worldwide. A number of other forms have been described including a rare adult form, Kufs disease (CLN4) and a Finnish late infantile variant (CLN5) (Dyken, 1988). Each form is distinguished by the age of onset and the clinical course of the disease, and a confusing number of eponyms have been used to describe them (Dyken, 1988; Kohlschütter et al., 1993). Partly because of this, the collective incidence of these diseases is unknown. However they are relatively common and an estimate of about 1 in 12,500 live births world-wide has been made (Rider and Rider, 1988).

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  1. Centre for Molecular Biology, AVSG, Lincoln University, P.O. Box 84, Canterbury, New Zealand

    D. N. Palmer & J. M. Hay

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  1. D. N. Palmer
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Editors and Affiliations

  1. University of Tokyo, Tokyo, Japan

    Koichi Suzuki

  2. College of Medicine, Penn State University, Hershey, Pennsylvania, USA

    Judith S. Bond

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© 1996 Plenum Press, New York

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Palmer, D.N., Hay, J.M. (1996). The Neuronal Ceroid Lipofuscinoses (Batten Disease). In: Suzuki, K., Bond, J.S. (eds) Intracellular Protein Catabolism. Advances in Experimental Medicine and Biology, vol 389. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0335-0_15

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  • DOI: https://doi.org/10.1007/978-1-4613-0335-0_15

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