Therapeutic Strategies

M. Chang, J.D. Cooper, B.L. Davidson and S.E. Mole

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

Therapeutic Strategies

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Patients with NCL suffer, and ultimately succumb to, symptoms related to central nervous system (CNS) dysfunction—cognitive decline, progressive visual loss, and motor deficits. Magnetic resonance imaging (MRI) indicates diffuse cerebral and cerebellar atrophy and as such, it is likely that effective therapies for NCL will need to be delivered widely within the CNS. Indeed, with neurological deficits that are not confined to a particular brain region, it is likely that a large percentage of the CNS volume must be treated. However, despite the apparently CNS-specific clinical symptoms in the NCLs, lysosomal storage is also observed in peripheral tissues. Why there should be no peripheral clinical symptoms is not clear, but it is conceivable that they would manifest should the CNS disease be treated and patient lifespan is extended. This is a possibility that researchers and clinicians must be mindful of, and combined targeting of the brain and body are likely to be necessary. Nevertheless, at present the CNS is the primary target for therapeutic strategies in the NCLs, with treating the brain representing a considerable challenge for providing effective therapies.

The first treatments likely to become available are those for NCLs caused by soluble enzyme deficiencies—CLN1/PPT1, CLN2/TPP1, and CTSD/CLN10, and CLN5 diseases are likely to fall into the same category. This chapter focuses largely on these NCLs. Aspects of these disorders are analogous to those of other lysosomal storage disorders caused by enzyme deficiencies. Accordingly, the candidate therapeutic strategies for enzyme deficient NCLs will largely parallel those investigated for these similar disorders. It can also be anticipated that targeted partial treatment, e.g. to prevent visual failure, would be welcome, particularly in CLN3 disease, juvenile but also CLN2 disease and others of late infantile onset, because of the improved quality of life that would result. The principles behind treating forms of NCLs caused by defects in transmembrane proteins, as typified by CLN3 disease, juvenile, are also addressed.

Chapter.  11124 words. 

Subjects: Neurology

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