The detail information of Neuronal ceroid lipofuscinosis, 8
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2005

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB410 Continental Toy Spaniel About 28 cm 25-45 kg BELGIUM, FRANCE
CB96 English Setter 63.5-68.6 cm (male), 58.4-63.5 cm (female) 29.5-36.3 kg (male), 20.4-24.9 kg (female) United Kingdom (England)
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Story,B.D.,Miller,M.E.,Bradbury,A.M.,Million,E.D.,Duan,D.,Taghian,T.,Faissler,D.,Fernau,D.,Beecy,S.J.,Gray-Edwards,H.L.: :
Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80, 2020.
Pubmed reference: 32219101 . DOI: 10.3389/fvets.2020.00080 .
2019 Guo,J.,Johnson,G.S.,Cook,J.,Harris,O.K.,Mhlanga-Mutangadura,T.,Schnabel,R.D.,Jensen,C.A.,Katz,M.L.: :
Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported <i>CLN8</i> nonsense variant. Mol Genet Metab Rep 21:100521, 2019.
Pubmed reference: 31687336 . DOI: 10.1016/j.ymgmr.2019.100521 .
2018 Lingaas,F.,Guttersrud,O.A.,Arnet,E.,Espenes,A.: :
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet 49:52-58, 2018.
Pubmed reference: 29446145 . DOI: 10.1111/age.12629 .
2017 Hirz,M.,Drögemüller,M.,Schänzer,A.,Jagannathan,V.,Dietschi,E.,Goebel,H.H.,Hecht,W.,Laubner,S.,Schmidt,M.J.,Steffen,F.,Hilbe,M.,Köhler,K.,Drögemüller,C.,Herden,C.: :
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Mol Genet Metab 120:269-277, 2017.
Pubmed reference: 28024876 . DOI: 10.1016/j.ymgme.2016.12.007 .
2017 Katz,M.L.,Rustad,E.,Robinson,G.O.,Whiting,R.E.H.,Student,J.T.,Coates,J.R.,Narfstrom,K.: :
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017.
Pubmed reference: 28860089 . DOI: 10.1016/j.nbd.2017.08.017 .
2014 Guo,J.,Johnson,G.S.,Brown,H.A.,Provencher,M.L.,daCosta,R.C.,Mhlanga-Mutangadura,T.,Taylor,J.F.,Schnabel,R.D.,O'Brien,D.P.,Katz,M.L.: :
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Mol Genet Metab 112:302-9, 2014.
Pubmed reference: 24953404 . DOI: 10.1016/j.ymgme.2014.05.014 .
2013 Bond,M.,Holthaus,S.M.,Tammen,I.,Tear,G.,Russell,C.: :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013.
Pubmed reference: 23338040 . DOI: 10.1016/j.bbadis.2013.01.009 .
2005 Katz,ML.,Khan,S.,Awano,T.,Shahid,SA.,Siakotos,AN.,Johnson,GS.: :
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327:541-7, 2005.
Pubmed reference: 15629147 . DOI: 10.1016/j.bbrc.2004.12.038 .
2002 Jolly,R.D.,Brown,S.,Das,A.M.,Walkley,S.U.: :
Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). Neurochem Int 40:565-71, 2002.
Pubmed reference: 11850114 .
2001 Katz,M.L.,Shibuya,H.,Johnson,G.S.: :
Animal models for the ceroid lipofuscinoses. Adv Genet 45:183-203, 2001.
Pubmed reference: 11332773 .
2001 Siakotos,A.N.,Hutchins,G.D.,Farlow,M.R.,Katz,M.L.: :
Assessment of dietary therapies in a canine model of Batten disease. Eur J Paediatr Neurol :151-6, 2001.
Pubmed reference: 11588988 .
1998 Lingaas,F.,Aarskaug,T.,Sletten,M.,Bjerkas,I.,Grimholt,U.,Moe,L.,Juneja,R.K.,Wilton,A.N.,Galibert,F.,Holmes,N.G.,Dolf,G.: :
Genetic markers linked to neuronal ceroid lipofuscinosis in English Setter dogs Animal Genetics 29:371-376, 1998.
Pubmed reference: 9800325 .
1998 Shibuya,H.,Liu,P.C.,Katz,M.L.,Siakotos,A.N.,Nonneman,D.J.,Johnson,G.S.: :
Coding sequence and exon/intron organization of the canine CLN3 (Batten-disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English Setter dogs Journal of Neuroscience Research 52:268-275, 1998.
Pubmed reference: 9590435 .
1998 Siakotos,A.N.,Blair,P.S.,Savill,J.D.,Katz,M.L.: :
Altered mitochondrial function in canine ceroid-lipofuscinosis Neurochemical Research 23:983-989, 1998.
Pubmed reference: 9690741 .
1997 Nilsson,S.E.,Wrigstad,A.: :
Electrophysiology in some animal and human hereditary diseases involving the retinal pigment epithelium. Eye (Lond) 11 ( Pt 5):698-706, 1997.
Pubmed reference: 9474321 . DOI: 10.1038/eye.1997.180 .
1995 Katz,M.L.,Siakotos,A.N.: :
Canine hereditary ceroid-lipofuscinosis: Evidence for a defect in the carnitine biosynthetic pathway American Journal of Medical Genetics 57:266-271, 1995.
Pubmed reference: 7668343 . DOI: 10.1002/ajmg.1320570231 .
1995 Kitani,K.,Senda,M.,Toyama,H.,Miyasaka,K.,Kanai,S.,Ohta,M.,Ivy,G.O.,Koppang,N.: :
Decline in glucose metabolism in the brain in neuronal ceroid lipofuscinosis (NCL) in English setter--evidence by positron emission tomography (PET). Gerontology 41 Suppl 2:249-57, 1995.
Pubmed reference: 8821336 .
1995 Savill,J.,Azzarelli,B.,Siakotos,A.N.: :
Early detection of canine ceroid-lipofuscinosis (CCL): An ultrastructural study American Journal of Medical Genetics 57:250-253, 1995.
Pubmed reference: 7668340 . DOI: 10.1002/ajmg.1320570228 .
1995 Siakotos,A.N.,Schnippel,K.,Lin,R.C.,Vankuijk,F.J.G.M.: :
Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis American Journal of Medical Genetics 57:290-293, 1995.
Pubmed reference: 7668347 . DOI: 10.1002/ajmg.1320570235 .
1994 Dunn,W.A.,Raizada,M.K.,Vogt,E.S.,Brown,E.A.: :
Growth factor-induced neurite growth in primary neuronal cultures of dogs with neuronal ceroid lipofuscinosis International Journal of Developmental Neuroscience 12:185-196, 1994.
Pubmed reference: 7942092 .
1994 Katz,M.L.,Christianson,J.S.,Norbury,N.E.,Gao,C.L.,Siakotos,A.N.,Koppang,N.: :
Lysine Methylation of Mitochondrial ATP Synthase Subunit-c Stored in Tissues of Dogs with Hereditary Ceroid Lipofuscinosis Journal of Biological Chemistry 269:9906-9911, 1994.
Pubmed reference: 8144584 .
1992 Banerjee,P.,Dasgupta,A.,Siakotos,A.N.,Dawson,G.: :
Evidence for lipase abnormality: high levels of free and triacylglycerol forms of unsaturated fatty acids in neuronal ceroid-lipofuscinosis tissue. Am J Med Genet 42:549-54, 1992.
Pubmed reference: 1609837 . DOI: 10.1002/ajmg.1320420426 .
1992 Goebel,H.H.: :
Retina in Various Animal Models of Neuronal Ceroid- Lipofuscinosis American Journal of Medical Genetics 42:605-608, 1992.
Pubmed reference: 1609843 . DOI: 10.1002/ajmg.1320420435 .
1992 Koppang,N.: :
English Setter Model and Juvenile Ceroid-Lipofuscinosis in Man American Journal of Medical Genetics 42:599-604, 1992.
Pubmed reference: 1609842 . DOI: 10.1002/ajmg.1320420434 .
1990 Deeg,H.J.,Shulman,H.M.,Albrechtsen,D.,Graham,T.C.,Storb,R.,Koppang,N.: :
Battens Disease - Failure of Allogeneic Bone Marrow Transplantation to Arrest Disease Progression in a Canine Model Clinical Genetics 37:264-270, 1990.
Pubmed reference: 2350897 .
1988 Koppang,N.: :
The English setter with ceroid-lipofuscinosis: a suitable model for the juvenile type of ceroid-lipofuscinosis in humans. Am J Med Genet Suppl 5:117-25, 1988.
Pubmed reference: 3146311 .
1988 Siakotos,A.N.,Bray,R.,Dratz,E.,vanKuijk,F.,Sevanian,A.,Koppang,N.: :
4-Hydroxynonenal: a specific indicator for canine neuronal-retinal ceroidosis. Am J Med Genet Suppl 5:171-81, 1988.
Pubmed reference: 3146315 .
1987 Koppang,N.: :
Hereditary ceroid lipofuscinosis in English setter dogs. A model for human neuronal ceroid-lipofuscinosis and aging. Advances in Biosciences 64:185-195, 1987.
1984 Keller,R.K.,Armstrong,D.,Crum,F.C.,Koppang,N.: :
Dolichol and dolichyl phosphate levels in brain tissue from English setters with ceroid lipofuscinosis. J Neurochem 42:1040-7, 1984.
Pubmed reference: 6321656 .
1983 Nilsson,S.E.,Armstrong,D.,Koppang,N.,Persson,P.,Milde,K.: :
Studies on the retina and the pigment epithelium in hereditary canine ceroid lipofuscinosis. IV. Changes in the electroretinogram and the standing potential of the eye. Invest Ophthalmol Vis Sci 24:77-84, 1983.
Pubmed reference: 6681808 .
1980 Armstrong,D.,Neville,H.,Siakotos,A.,Wilson,B.,Wehling,C.,Koppang,N.: :
Morphological and biochemical abnormalities in a model of retinal degeneration: Canine ceroid-lipofuscinosis (CCL). Neurochem Int 1C:405-26, 1980.
Pubmed reference: 20487751 .
1980 Neville,H.,Armstrong,D.,Wilson,B.,Koppang,N.,Wehling,C.: :
Studies on the retina and the pigment epithelium in hereditary canine ceroid lipofuscinosis. III. Morphologic abnormalities in retinal neurons and retinal pigmented epithelial cells. Invest Ophthalmol Vis Sci 19:75-86, 1980.
Pubmed reference: 7350137 .
1975 Berson,E.L.,Watson,G.: :
Electroretinograms in English Setters with neuronal ceroid lipofuscinosis Investigative Ophthalmology and Visual Science 19:87-90, 1975.
1970 Koppang,N.: :
Neuronal ceroid-lipofuscinosis in English setters Journal of Small Animal Practice 10:639-644, 1970.