OMIA:000181-9615 : Neuronal Ceroid Lipofuscinosis, generic in Canis lupus familiaris (dog)

In other species: Mallard , crab-eating macaque , domestic ferret , domestic cat , horse , pig , taurine cattle , goat , sheep , peach-faced lovebird

Categories: Lysosomal storage disease , Nervous system phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: The neuronal ceroid lipofuscinoses (NCLs) are a heterogenous group of inherited neurodegenerative diseases characterised by brain and retinal atrophy and the accumulation of autofluorescent lipopigment in neurons and many other cells within the body. Clinical features of NCL are abnormal behavior, dementia, loss of vision, motor disturbances and seizures, and premature death. See also gene specific entries including OMIA:001504 (PPT1-related), OMIA:001472 (TPP1-related), OMIA:002432 (CLN3-related), OMIA:001482 (CLN5-related), OMIA:001443 (CLN6-related), OMIA:001962 (CLN7/MFSD8-related), OMIA:001506 (CLN8-related), OMIA:001505 (CTSD10-related) and OMIA:001552 (ATP13A2-related).

Species-specific name: Neuronal ceroid lipofuscinosis

Inheritance: Autosomal recessive (Koppang, 1973)

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:000181-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2021 Cerda-Gonzalez, S., Packer, R.A., Garosi, L., Lowrie, M., Mandigers, P.J.J., O'Brien, D.P., Volk, H.A. :
International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med 35:1218-1230, 2021. Pubmed reference: 33769611. DOI: 10.1111/jvim.16108.
Tamura, S., Tsuboi, M., Ueoka, N., Doi, S., Tamura, Y., Uchida, K., Yabuki, A., Yamato, O. :
Adult-onset neuronal ceroid lipofuscinosis in a Shikoku Inu. Vet Sci 8, 2021. Pubmed reference: 34679057. DOI: 10.3390/vetsci8100227.
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 108:277-87, 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 72:1495-9, 2010. Pubmed reference: 20585192. DOI: 10.1292/jvms.10-0072.
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.
Evans, J., Katz, ML., Levesque, D., Shelton, GD., de Lahunta, 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.
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.
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.
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.
Palmer, D.N., Jolly, R.D., van Mil, 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Armstrong, D., Koppang, N., Nilsson, S.E. :
Canine hereditary ceroid lipofuscinosis European Neurology 21:147-156, 1982. Pubmed reference: 7117302.
Nimmo Wilkie, 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.

Edit History

  • Created by Frank Nicholas on 26 Oct 2010
  • Changed by Frank Nicholas on 30 Oct 2011
  • Changed by Frank Nicholas on 18 Jun 2013