Ceroid Lipofuscinosis is, apparently, autosomal recessive (assigned to several chromosomes). Brown ceroid (wax-like) deposits in several internal organs, including the nervous system, causes spasms and mental retardation. The infantile subtype (CNL1) was located to chromosome 1p32 and it involves rapidly progressing mental deterioration due to a deficiency of palmitoyl protein thioesterase. Its prevalence is about 1/12,500. CNL3 (16q12.1) or Batten disease/Vogt-Spielmeyer disease involves neuronal degeneration, loss of brain material, and retinal atrophy. The affects are either a lysosome-associated membrane protein or neuronal synaptophysin. Its prevalence at live birth is ∼4–5 × 10−6 to 5 × 10−5. CLN2 (11p15.5, Jansky-Bielschowsky disease) is a late juvenile type. The late-infantile neuronal ceroid lipofuscinosis (CLN5, 13q22) was attributed to a pepstatin-insensitive lysosomal peptidase or lysosomal transmembrane protein. CLN6 (15q21-q23) is another late infantile form. Some other...
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsRights and permissions
Copyright information
© 2008 Springer Science+Business Media
About this entry
Cite this entry
(2008). Ceroid Lipofuscinosis (NCL). In: Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-6754-9_2713
Download citation
DOI: https://doi.org/10.1007/978-1-4020-6754-9_2713
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-1-4020-6753-2
Online ISBN: 978-1-4020-6754-9
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences