title: [NCL in animal models].
abstract: Neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative diseases leading to early death. They belong to the group of lysosomal storage diseases. Epileptic seizures, dementia and motor deficits are frequent symptoms which are to be found prior to a total dismantling of personality and death. At present 10 subtypes of NCL can be distinguished from which the genetic defect is known in eight. The encoded proteins are soluble or membrane proteins whose function is still unclear in most cases. The investigation of the pathology and pathophysiology of NCL is highly dependent on animal models. Mouse models existing for all forms with a known genetic defect play a prominent role. Unfortunately, the retinal phenotype of some mouse models is milder than in humans rendering the appreciation of a positive therapeutic effect more difficult. Because of the severity of NCL, therapy strategies only established in a mouse model will be transferred to humans very quickly.
authors.affiliation: Arbeitsbereich Strabologie/Neuroophthalmologie, Augenklinik, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany. Klaus.ruether@charite.de
authors.forename: K
authors.initials: K
authors.lastname: Rüther
mesh_terms: D000818:Animals; D002648:Child; D004195:Disease Models, Animal; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D051379:Mice; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000503:physiopathology*; D014786:Vision Disorders / Q000209:etiology / Q000503:physiopathology*
references.citation: Hum Mol Genet. 2001 Sep 15;10(19):2123-31
references.pmid: 11590129
references.citation: Pediatr Neurol. 2007 Jun;36(6):411-3
references.pmid: 17560505
references.citation: Mol Genet Metab. 2006 Apr;87(4):341-8
references.pmid: 16386934
references.citation: J Clin Invest. 1998 Jul 15;102(2):361-70
references.pmid: 9664077
references.citation: Brain Pathol. 2006 Apr;16(2):110-6
references.pmid: 16768750
references.citation: Biochem Biophys Res Commun. 2005 Feb 11;327(2):541-7
references.pmid: 15629147
references.citation: J Inherit Metab Dis. 2005;28(6):1065-80
references.pmid: 16435200
references.citation: J Neurosci Res. 1999 Aug 15;57(4):551-6
references.pmid: 10440905
references.citation: Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13566-71
references.pmid: 11717424
references.citation: Neurobiol Dis. 2006 May;22(2):284-93
references.pmid: 16412658
references.citation: Acta Neurol Scand. 1997 Jan;95(1):1-8
references.pmid: 9048977
references.citation: Brain. 2006 Jun;129(Pt 6):1438-45
references.pmid: 16670177
references.citation: Am J Med Genet. 1995 Jun 5;57(2):361-4
references.pmid: 7668363
references.citation: Genomics. 2005 Sep;86(3):287-94
references.pmid: 16033706
references.citation: Am J Hum Genet. 2002 Feb;70(2):537-42
references.pmid: 11727201
references.citation: EMBO J. 1995 Aug 1;14(15):3599-608
references.pmid: 7641679
references.citation: Mol Ther. 2007 Mar;15(3):481-91
references.pmid: 17180118
references.citation: Neurobiol Dis. 2005 Feb;18(1):226-41
references.pmid: 15649713
references.citation: Neuropathol Appl Neurobiol. 1989 Jul-Aug;15(4):371-83
references.pmid: 2779737
references.citation: J Neurosci. 2000 Sep 15;20(18):6898-906
references.pmid: 10995834
references.citation: Eur J Neurosci. 2002 Dec;16(12):2291-6
references.pmid: 12492423
references.citation: Hum Mol Genet. 2004 Dec 1;13(23):2893-906
references.pmid: 15459177
references.citation: Biochim Biophys Acta. 2006 Oct;1762(10):890-7
references.pmid: 16935476
references.citation: Biochim Biophys Acta. 2009 Apr;1793(4):697-709
references.pmid: 19084560
references.citation: Mol Ther. 2006 Mar;13(3):538-47
references.pmid: 16364693
references.citation: J Neurosci Res. 2000 Oct 15;62(2):234-40
references.pmid: 11020216
references.citation: Eye (Lond). 2005 Dec;19(12):1306-12
references.pmid: 15565184
references.citation: J Neuropathol Exp Neurol. 2008 Jan;67(1):16-29
references.pmid: 18091563
references.citation: J Neurosci. 2007 Sep 12;27(37):9826-34
references.pmid: 17855597
references.citation: J Biol Chem. 2006 Feb 3;281(5):2784-94
references.pmid: 16303764
references.citation: Neurobiol Dis. 2008 Feb;29(2):306-15
references.pmid: 17988881
references.citation: Mol Genet Metab. 2006 Nov;89(3):254-60
references.pmid: 16621647
references.citation: Am J Hum Genet. 2006 Jun;78(6):988-98
references.pmid: 16685649
references.citation: Hum Gene Ther. 2008 May;19(5):463-74
references.pmid: 18473686
references.citation: Hum Mol Genet. 2002 Oct 15;11(22):2709-21
references.pmid: 12374761
references.citation: Mol Cell Neurosci. 2003 Feb;22(2):146-61
references.pmid: 12676526
references.citation: Mol Cell Neurosci. 2002 Apr;19(4):515-27
references.pmid: 11988019
references.citation: J Neurosci. 2006 Feb 1;26(5):1334-42
references.pmid: 16452657
references.citation: FEBS Lett. 2003 Mar 13;538(1-3):207-12
references.pmid: 12633880
references.citation: Neurobiol Dis. 2009 May;34(2):308-19
references.pmid: 19385065
references.citation: EMBO J. 2000 Jun 15;19(12):2786-92
references.pmid: 10856224
references.citation: Nat Genet. 1999 Oct;23(2):233-6
references.pmid: 10508524
references.citation: J Neurosci. 2004 Oct 13;24(41):9117-26
references.pmid: 15483130
references.citation: Mol Ther. 2005 Sep;12(3):413-21
references.pmid: 15979943