Outlook into the Next Decade

S.E. Mole, R.E. Williams and H.H. Goebel

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

Outlook into the Next Decade

Show Summary Details


Considerable progress in elucidating and understanding the NCLs has been achieved during the last three decades, but they are far from being completely explained. Genetic and biochemical studies suggest that a new and more sensitive classification of NCL is required. It is clear that in many cases the age of onset does not indicate to which classic subdivision a patient’s type belongs. The morphology is a good guide, but even here careful interpretation is required to distinguish between subtle variations—many types, particularly within the variant late infantile group, have similar morphology. The distinction between the main protein components of the storage material in different types is still unexplained. Of the NCL genes identified, three are lysosomal lumenal enzymes whereas others are definitely not. A common ground for all the NCLs still appears to be a connection with the lysosome, but this remains a hypothesis, albeit well supported. The NCLs may still eventually be split into further non-overlapping groups just as the original collection of disorders known as the amaurotic family idiocies, which had neuronal storage in common and to which NCL belonged, has been further divided into a number of biochemically and genetically distinct lysosomal disorders. However any such subdivisions of the NCLs should await a full understanding of the molecular basis of these diseases.

Research in the NCLs will continue over the next decade within the areas represented by individual sections and chapters in this book, and considerable progress is anticipated.

Chapter.  1358 words. 

Subjects: Neurology

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.