The detail information of Neuronal Ceroid Lipofuscinosis, generic
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: -

Species-specific name: Neuronal ceroid lipofuscinosis

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
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 .
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 .
2013 Hasegawa,D.,Tamura,S.,Nakamoto,Y.,Matsuki,N.,Takahashi,K.,Fujita,M.,Uchida,K.,Yamato,O.: :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013.
Pubmed reference: 24386203 . DOI: 10.1371/journal.pone.0083455 .
2011 Nakamoto,Y.,Yamato,O.,Uchida,K.,Nibe,K.,Tamura,S.,Ozawa,T.,Ueoka,N.,Nukaya,A.,Yabuki,A.,Nakaichi,M.: :
Neuronal ceroid-lipofuscinosis in longhaired Chihuahuas: clinical, pathologic, and MRI findings. J Am Anim Hosp Assoc 47:e64-70, 2011.
Pubmed reference: 21730095 . DOI: 10.5326/JAAHA-MS-5564 .
2010 Nibe,K.,Nakayama,H.,Uchida,K.: :
Comparative Study of Cerebellar Degeneration in Canine Neuroaxonal Dystrophy, Cerebellar Cortical Abiotrophy, and Neuronal Ceroid-Lipofuscinosis. J Vet Med Sci :, 2010.
Pubmed reference: 20585192 .
2008 O'Brien,DP.,Katz,ML.: :
Neuronal ceroid lipofuscinosis in 3 Australian shepherd littermates. J Vet Intern Med 22:472-5, 2008.
Pubmed reference: 18371036 . DOI: 10.1111/j.1939-1676.2008.0079.x .
2007 Narfström,K.,Wrigstad,A.,Ekesten,B.,Berg,A.L.: :
Neuronal ceroid lipofuscinosis: clinical and morphologic findings in nine affected Polish Owczarek Nizinny (PON) dogs. Vet Ophthalmol 10:111-20, 2007.
Pubmed reference: 17324167 . DOI: 10.1111/j.1463-5224.2007.00527.x .
2005 Drogemulller,C.,Wohlke,A.,Distl,O.: :
Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs. Anim Genet 36:178-9, 2005.
Pubmed reference: 15771740 . DOI: 10.1111/j.1365-2052.2005.01254.x .
2005 Evans,J.,Katz,ML.,Levesque,D.,Shelton,GD.,deLahunta,A.,O'Brien,D.: :
A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med 19:44-51, 2005.
Pubmed reference: 15715047 .
2004 Koie,H.,Shibuya,H.,Sato,T.,Sato,A.,Nawa,K.,Nawa,Y.,Kitagawa,M.,Sakai,M.,Takahashi,T.,Yamaya,Y.,Yamato,O.,Watari,T.,Tokuriki,M.: :
Magnetic resonance imaging of neuronal ceroid lipofuscinosis in a border collie. J Vet Med Sci 66:1453-6, 2004.
Pubmed reference: 15585966 .
2003 Kuwamura,M.,Hattori,R.,Yamate,J.,Kotani,T.,Sasai,K.: :
Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua. J Small Anim Pract 44:227-30, 2003.
Pubmed reference: 12779175 .
2003 Rossmeisl,J.H.,Duncan,R.,Fox,J.,Herring,E.S.,Inzana,K.D.: :
Neuronal ceroid-lipofuscinosis in a Labrador Retriever. J Vet Diagn Invest 15:457-60, 2003.
Pubmed reference: 14535546 .
2001 Katz,M.L.,Shibuya,H.,Johnson,G.S.: :
Animal models for the ceroid lipofuscinoses. Adv Genet 45:183-203, 2001.
Pubmed reference: 11332773 .
2000 Minatel,L.,Underwood,S.C.,Carfagnini,J.C.: :
Ceroid-lipofuscinosis in a Cocker Spaniel dog Veterinary Pathology 37:488-490, 2000.
Pubmed reference: 11055878 .
1997 Jolly,R.D.,Sutton,R.H.,Smith,R.I.E.,Palmer,D.N.: :
Ceroid-lipofuscinosis in Miniature Schnauzer dogs Australian Veterinary Journal 75:67, 1997.
Pubmed reference: 9034507 .
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 .
1997 Palmer,D.N.,Jolly,R.D.,vanMil,H.C.,Tyynelä,J.,Westlake,V.J.: :
Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease). Neuropediatrics 28:45-8, 1997.
Pubmed reference: 9151321 . DOI: 10.1055/s-2007-973666 .
1997 Palmer,D.N.,Tyynela,J.,Vanmil,H.C.,Westlake,V.J.,Jolly,R.D.: :
Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in Miniature Schnauzer dogs with ceroid-lipofuscinosis Journal of Inherited Metabolic Disease 20:74-84, 1997.
Pubmed reference: 9061571 .
1996 Cantile,C.,Buonaccorsi,A.,Pepe,V.,Arispici,M.: :
Juvenile neuronal ceroid-lipofuscinosis (Battens disease) in a poodle dog Progress in Veterinary Neurology 7:82-87, 1996.
1996 Smith,R.,Sutton,R.,Jolly,R.,Smith,K.: :
A retinal degeneration associated with ceroid-lipofuscinosis in adult miniature Schnauzers. Vet. Comp. Opthalmol. 6:187-191, 1996.
1995 Elleder,M.,Drahota,Z.,Lisa,V.,Mares,V.,Mandys,V.,Muller,J.,Palmer,D.N.: :
Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): Testing their lysosomal degradability by normal and batten cells American Journal of Medical Genetics 57:213-221, 1995.
Pubmed reference: 7668332 . DOI: 10.1002/ajmg.1320570220 .
1995 Jolly,R.D.: :
Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview. Am J Med Genet 57:307-11, 1995.
Pubmed reference: 7668352 . DOI: 10.1002/ajmg.1320570240 .
1995 March,P.A.,Wurzelmann,S.,Walkley,S.U.: :
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease American Journal of Medical Genetics 57:204-212, 1995.
Pubmed reference: 7668331 . DOI: 10.1002/ajmg.1320570219 .
1995 Narfström,K.,Wrigstad,A.: :
Clinical, electrophysiological, and morphological findings in a case of neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog. Vet Q 17 Suppl 1:S46, 1995.
Pubmed reference: 7571313 .
1995 Wrigstad,A.,Nilsson,S.E.G.,Dubielzig,R.,Narfstrom,K.: :
Neuronal ceroid lipofuscinosis in the Polish Owczarek Nizinny (PON) dog - a retinal study Documenta Ophthalmologica 91:33-47, 1995.
Pubmed reference: 8861635 .
1994 Jolly,R.D.,Palmer,D.N.,Studdert,V.P.,Sutton,R.H.,Kelly,W.R.,Koppang,N.,Dahme,G.,Hartley,W.J.,Patterson,J.S.,Riis,R.C.: :
Canine ceroid-lipofuscinoses: A review and classification Journal of Small Animal Practice 35:299-306, 1994.
1994 Jolly,RD.,Hartley,WJ.,Jones,BR.,Johnstone,AC.,Palmer,AC.,Blakemore,WF.: :
Generalised ceroid-lipofuscinosis and brown bowel syndrome in Cocker spaniel dogs. N Z Vet J 42:236-9, 1994.
Pubmed reference: 16031790 . DOI: 10.1080/00480169.1994.35830 .
1993 Armstrong,D.,Ulshafer,R.: :
Invitro Glycosylation in the Retina in Canine Ceroid- Lipofuscinosis Annals of Clinical and Laboratory Science 23:369-376, 1993.
Pubmed reference: 8239484 .
1993 Dawson,G.,Kilkus,J.,Siakotos,A.N.: :
Reduced Phospholipase Activity, Peptide Storage and the Pathogenesis of Canine Neuronal Ceroid-Lipofuscinosis Journal of Inherited Metabolic Disease 16:330-334, 1993.
Pubmed reference: 8411992 .
1993 Siakotos,A.N.,Vankuijk,F.J.G.M.,Tischfield,J.A.: :
Elevated Levels of Neutrophil 4-Hydroxynonenal in Canine Neuronal Ceroid-Lipofuscinosis and Human Immortalized Lymphocytes of NCL Patients Journal of Inherited Metabolic Disease 16:323-329, 1993.
Pubmed reference: 8411991 .
1992 Jolly,R.D.,Martinus,R.D.,Palmer,D.N.: :
Sheep and Other Animals with Ceroid-Lipofuscinoses - Their Relevance to Batten Disease American Journal of Medical Genetics 42:609-614, 1992.
Pubmed reference: 1535180 . DOI: 10.1002/ajmg.1320420436 .
1990 Sisk,D.B.,Levesque,D.C.,Wood,P.A.,Styer,E.L.: :
Clinical and pathologic features of ceroid lipofuscinosis in two Australian cattle dogs. J Am Vet Med Assoc 197:361-4, 1990.
Pubmed reference: 2391273 .
1988 Goebel,H.H.,Bilzer,T.,Dahme,E.,Malkusch,F.: :
Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis. Am J Med Genet Suppl 5:127-39, 1988.
Pubmed reference: 3146312 .
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.
1987 Wood,P.A.,Sisk,D.B.,Styer,E.,Baker,H.: :
Animal model: ceroidis (ceroid-lipofuscinosis) in Australian cattle dogs American Journal of Medical Genetics 26:891-898, 1987.
Pubmed reference: 3591832 .
1986 Goebel,H.H.,Dahme,E.: :
Ultrastructure of retinal pigment epithelial and neural cells in the neuronal ceroid-lipofuscinosis affected Dalmatian dog. Retina 6:179-87, 1986.
Pubmed reference: 3025985 .
1985 Umemura,T.,Sato,H.,Goryo,M.,Itakura,C.: :
Generalized lipofuscinosis in a dog. Nihon Juigaku Zasshi 47:673-7, 1985.
Pubmed reference: 4046273 .
1982 Appleby,E.C.,Longstaffe,J.A.,Bell,F.R.: :
Ceroid-lipofuscinosis in two Saluki dogs. J Comp Pathol 92:375-80, 1982.
Pubmed reference: 6890561 .
1982 Armstrong,D.,Koppang,N.,Nilsson,S.E.: :
Canine hereditary ceroid lipofuscinosis European Neurology 21:147-156, 1982.
Pubmed reference: 7117302 .
1982 NimmoWilkie,JS.,Hudson,EB.: :
Neuronal and generalized ceroid-lipofuscinosis in a cocker spaniel. Vet Pathol 19:623-8, 1982.
Pubmed reference: 6890736 .
1973 Koppang,N.: :
Canine ceroid-lipofuscinosis. A model for human neuronal ceroid-lipofuscinosis and aging Mech Ageing Dev 2:421-445, 1973.
Pubmed reference: 4134804 .
1965 Fankhauser,R.: :
[Degenerative lipoidosis of the central nervous system in two dogs.] Degenerative, lipoidiotische Erkrankung des zentral nervens system bei zwie hunden Schweizer Archiv fur Tierheilkunde 107:73-87, 1965.