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Neuronal ceroid lipofuscinosis/Batten disease: the lysosomal proteinoses

Molecular Psychiatry volume 7, pages 434–436 (2002)Cite this article

Excessive protein accumulation is a recurring theme in the hereditary neurodegenerations. The neuronal ceroid lipofuscinoses (Batten disease) provide another example—with the twist that the lysosomal compartment is the site of abnormal protein storage, due to defects in lysosomal proteases or related enzymes.

The abnormal accumulation of specific proteins in neurons has emerged as a consistent theme in neurodegenerative disorders: β-APP in Alzheimer disease, α-synuclein in familial Parkinson's disease and Lewy body dementia, and polyglutamine in Huntingdon disease and certain spinocerebellar atrophies. In each case, for mysterious reasons, the failure to metabolize a particular protein leads to selective loss of a population of cells in the brain, with devastating clinical consequences. The obvious conclusion is that the neuron, a post-mitotic cell, is particularly vulnerable to this type of insult.

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Acknowledgements

This work is supported by the National Institute for Neurological Disorders and Stroke (NS36867 and NS35323) and the Batten Disease Support and Research Association.

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  1. Department of Internal Medicine and the Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center, Dallas, TX, USA

    P Gupta & S L Hofmann

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  1. P Gupta
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  2. S L Hofmann
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Correspondence to S L Hofmann.

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Gupta, P., Hofmann, S. Neuronal ceroid lipofuscinosis/Batten disease: the lysosomal proteinoses. Mol Psychiatry 7, 434–436 (2002). https://doi.org/10.1038/sj.mp.4001127

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