Abstract
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage diseases comprising a group of progressive neurodegenerative disorders inherited in an autosomal recessive manner. In children, they represent the most common neurodegenerative disorder. Three major types of NCL are distinguished clinically: infantile, late onset infantile, and juvenile. They can also be distinguished by electron microscopy since the fine structure of the depositions is characteristic for each of them.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Eiberg H, Bisgaard ML, and Mohr J (1989) Linkage between alpha IB-glycoprotein (AIBG) and Lutheran (LU) red blood group system: assignment to chromosome 19: new genetic variants of AIBG. Clin Genet 36: 415
Gonatas NK, Gambetti P, and Baird H (1968) A second type of late infantile amaurotic idiocy with multilamellar cytosomes. Neuropath Exp Neurol 27: 371
Haltia M, Rapola J, and Santavuori P (1973) Infantile type of socalled neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies. Acta Neuropathol (Berlin) 26: 157
Hofmann S and Peltonen L (2001) The neuronal ceroid lipofuscinoses. In: The metabolic and molecular bases of inherited disease (Scriver C, Beaudet A, Valle D, and Sly WS, eds). New York: McGraw-Hill, pp 3877
Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PE, et al. (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7: 291
Sharp JD, Wheeler RB, Lake BD, Savukoski M, Iarvela IE, Peltonen L, Gardiner RM, and Williams RE (1997) Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 6:591
Sleat DE, Donnelly RJ, Lackland H, Liu CG, Soha I, Pullarkat RK, and Lobel P (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277: 1802
Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori, P, Hofmann SL, and Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376: 584
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer-Verlag/Wien
About this chapter
Cite this chapter
Pavelka, M., Roth, J. (2010). Neuronal Ceroid Lipofuscinosis. In: Functional Ultrastructure. Springer, Vienna. https://doi.org/10.1007/978-3-211-99390-3_173
Download citation
DOI: https://doi.org/10.1007/978-3-211-99390-3_173
Publisher Name: Springer, Vienna
Print ISBN: 978-3-211-99389-7
Online ISBN: 978-3-211-99390-3
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)