Chapter

NCL Diagnosis and Algorithms

A. Kohlschütter, R. E. Williams, H. H. Goebel, S. E. Mole, R.-M. Boustany, O.P. van Diggelen, M. Elleder, J. Mink, R. Niezen de Boer, M.G. Ribeiro and A. Simonati

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/9780199590018.003.0003

Series: Contemporary Neurology Series

NCL Diagnosis and Algorithms

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The aim of providing young people, carers, and professionals with a diagnosis is to provide information that leads to effective clinical management of symptoms and perhaps a cure. An accurate and complete diagnosis is also necessary for basic scientific as well as clinical research. As for Chapter 2, this chapter and the algorithms were initially drafted by the editors, who represent clinical, molecular genetic, biological, and morphological interests, and further revised by a panel of world experts in the NCLs.

The algorithms have been developed as a response to many diagnostic queries from clinicians. They have been directed to support groups and laboratory scientists as well as more experienced NCL clinicians. The algorithms have not yet been audited or evaluated formally and aim only to provide a sensible logical approach to the investigation of this group of children and young adults. They may be adapted according to particular circumstances and the resources available in different countries.

Two algorithms are given.

Chapter.  4486 words.  Illustrated.

Subjects: Neurology

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