Chapter

The NCLs: Evolution of the Concept and Classification

M. Haltia, M. Elleder, H. H. Goebel, B. D. Lake 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: http://dx.doi.org/10.1093/med/9780199590018.003.0001

Series: Contemporary Neurology Series

The NCLs: Evolution of the Concept and Classification

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The term neuronal ceroid lipofuscinoses (NCLs) was coined by Zeman and Dyken in 1969 to designate a group of inherited storage disorders, clinically characterized by progressive decline of mental, motor, and visual functions (Zeman and Dyken, 1969). For many decades, the NCLs had been classified among the so-called ‘amaurotic family idiocies’ owing to their superficial clinical resemblance to Tay–Sachs disease, the prototype of this group. Zeman and Dyken clearly separated the NCLs from Tay–Sachs disease and related conditions, essentially on the basis of neuropathological criteria. Their novel concept literally destroyed the category of the ‘amaurotic family idiocies’ and largely cleared the confusion that had prevailed concerning this group for over half a century. Zeman and Dyken thus paved the way for a new and fruitful wave of research into the aetiopathogenesis of these devastating brain diseases.

This chapter outlines nearly 200 years of NCL research, with a short initial comment on lipofuscin and ceroid. The early clinical, neuropathological, and biochemical studies that gradually led to the formulation of the NCL concept are described. An account is also given of the further development of this concept with emphasis on the extremely fruitful molecular genetic studies of the last decade, resulting in the cloning of eight different NCL genes with over 260 mutations identified, and leading to the present classification of more than ten genetically distinct forms of NCL in man and further forms in animals. Finally, the evolution of ideas on the pathogenesis of NCL and international collaboration in NCL research are briefly discussed.

Chapter.  11821 words.  Illustrated.

Subjects: Neurology

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