Chapter

Genetically Unassigned or Unusual NCLs

R.-M. Boustany, C. Ceuterick-de Groote, H.H. Goebel, J.-J. Martin, S.E. Mole and A. Schulz

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/9780199590018.003.0014

Series: Contemporary Neurology Series

Genetically Unassigned or Unusual NCLs

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There are several groups of NCL patients that remain undefined genetically or are unusual genetically. One group includes those with symptom onset in adulthood. Historically this group was assigned the gene symbol CLN4, as it was assumed that this disease was caused by mutations in a distinct gene. There is a second group with juvenile onset, known as the ‘CLN9’ type, that do not carry mutations in CLN3. A third group comprises children with onset in late infancy that do not carry mutations in the genes already known to cause disease with this age of onset (CLN2/TPP1, CLN5, CLN6, CLN7/MFSD8, CLN8). Disease in this age range is clearly genetically heterogeneous, and there may be several new genes still to be identified. There are also further small groupings of families who do not appear to map to known human gene loci. Some of these families may carry mutations in genes known to cause NCL-like disease in animals but, to date, few of these genes have been studied in human patients.

Work in mouse models suggests that other genes may contribute to NCL-like disease. These include CLCN6 and CLCN7, which have not been fully tested as candidates causing human NCL disease. Another gene, SGSH, usually associated with one of the mucopolysaccharidoses (MPSs), was found to be mutated in one patient initially diagnosed with adult onset NCL. This patient, more correctly, has a diagnosis of MPSIII, adult onset.

Chapter.  13497 words.  Illustrated.

Subjects: Neurology

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