OMIA:000175-9615 : Cerebellar abiotrophy in Canis lupus familiaris (dog)

In other species: domestic cat , horse , taurine cattle , goat , sheep , Magellanic penguin

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600224 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Also known as neonatal cerebellar cortical degeneration (NCCD)

Species-specific name: cerebellar ataxia

Species-specific description: Cerebellar abiotrophy (CA) has been diagnosed in many dog breeds and different names have been used for the disease - please see separate entries in OMIA for CA diseases with known likely causal variants, e.g. OMIA:002092-9615 : Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris; OMIA:002602-9615 : Cerebellar abiotrophy, VMP1-related in Canis lupus familiaris

Inheritance: Wade et al. (2022): "Based on past breeding studies, pedigree analysis and segregation analysis, CA has been suspected or confirmed to have an autosomal recessive mode of inheritance in many of the affected dog breeds ... ."

Mapping: A GWAS conducted by Shearman et al. (2011) on 11 affected and 19 normal Australian Kelpies, each genotyped with the Affymetrix Canine SNP array v2, failed to reveal any significant associations. A homozygosity analysis of the same data was more revealing, enabling Shearman et al. (2011) to map this disorder to a 3Mb region on chromosome CFA3. The disorder in Beagles, whose causal mutation was described by Forman et al. (2012; see OMIA:002092-9615 : Ataxia, spinocerebellar, SPTBN2-related in Canis lupus familiaris), maps to chromosome CFA18. Wade et al. (2022): “Investigation of clinical and pathological features [in Australian working kelpie dogs] indicated two closely related diseases with differences in age of onset. … A genome-wide association study on 45 CA affected and 290 normal healthy Kelpies identified two significantly associated loci, one on CFA9 and a second on CFA20. Dogs homozygous for the risk haplotype on CFA20 (23 dogs) show clinical signs before ten weeks of age. Missense variants in the sixth exon of disruptor of telomeric silencing 1-like (DOT1Lp.R200Q) and in the only exon of Leucine Rich Repeat And Ig Domain Containing 3 (LINGO3p.R359C), both on CFA20, segregate with the associated risk marker which has incomplete penetrance (42%). Affected dogs homozygous for the risk haplotype on CFA9 have later onset ataxia. A missense variant in exon 5 of Vacuole Membrane Protein 1 (VMP1 p.P160Q) on CFA9 segregates as a fully penetrant Mendelian recessive with later-onset CA.” See 'OMIA:002602-9615 : Cerebellar abiotrophy, VMP1-related in Canis lupus familiaris' for information relating to the VMP1 variant.

Breeds: Australian Kelpie (Dog) (VBO_0200090), Beagle (Dog) (VBO_0200131), Border Collie (Dog) (VBO_0200193), Boxer (Dog) (VBO_0200210), Brittany Spaniel (Dog) (VBO_0200239), English Bulldog (Dog) (VBO_0200485), Kerry Blue Terrier (Dog) (VBO_0200764), Labrador Retriever (Dog) (VBO_0200800), Lagotto Romagnolo (Dog) (VBO_0200804), Working Kelpie (Dog) (VBO_0201434).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000175-9615: 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.

2023 Stee, K., Van Poucke, M., Lowrie, M., Van Ham, L., Peelman, L., Olby, N., Bhatti, S.F.M. :
Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med 37:1306-1322, 2023. Pubmed reference: 37341581. DOI: 10.1111/jvim.16742.
2022 Wade, C.M., Pan, A.Y.H., Taylor, R.M., Williamson, P. :
Cerebellar abiotrophy in Australian Working Kelpies is associated with two major risk loci. Genes (Basel) 13:1709, 2022. Pubmed reference: 36292596. DOI: 10.3390/genes13101709.
2018 Scott, E.Y., Woolard, K.D., Finno, C.J., Murray, J.D. :
Cerebellar abiotrophy across domestic species. Cerebellum 17:372-379, 2018. Pubmed reference: 29294214. DOI: 10.1007/s12311-017-0914-1.
2017 Pan, A.Y.H., Wade, C.M., Taylor, R.M., Williamson, P. :
Exclusion of known gene loci for cerebellar abiotrophy in the Australian Working Kelpie. Anim Genet 48:730-732, 2017. Pubmed reference: 28850678. DOI: 10.1111/age.12594.
Sen, C., Sharma, A.K., Randhawa, C.S., Gupta, K. :
Cerebellar cortical abiotrophy in young Labrador-Retrievers. Top Companion Anim Med 32:20-23, 2017. Pubmed reference: 28750785. DOI: 10.1053/j.tcam.2017.06.003.
2014 Bertalan, A., Glass, E.N., Kent, M., De LaHunta, A., Bradley, C. :
Late-onset cerebellar abiotrophy in a Labrador Retriever. Aust Vet J 92:339-42, 2014. Pubmed reference: 24995529. DOI: 10.1111/avj.12211.
2012 Forman, O.P., De Risio, L., Stewart, J., Mellersh, C.S., Beltran, E. :
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed reference: 22781464. DOI: 10.1186/1471-2156-13-55.
Ostrander, E.A., Beale, H. :
Leading the way: finding genes for neurologic disease in dogs using genome-wide mRNA sequencing. BMC Genet 13:56, 2012. Pubmed reference: 22781504. DOI: 10.1186/1471-2156-13-56.
2011 Shearman, J.R., Cook, R.W., McCowan, C., Fletcher, J.L., Taylor, R.M., Wilton, A.N. :
Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet 42:675-678, 2011. Pubmed reference: 22035013. DOI: 10.1111/j.1365-2052.2011.02199.x.
2010 Gumber, S., Cho, D.Y., Morgan, T.W. :
Late onset of cerebellar abiotrophy in a boxer dog. Vet Med Int 2010:406275, 2010. Pubmed reference: 21151662. DOI: 10.4061/2010/406275.
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.
Urkasemsin, G., Linder, K.E., Bell, J.S., de Lahunta, A., Olby, N.J. :
Hereditary cerebellar degeneration in Scottish terriers. J Vet Intern Med 24:565-70, 2010. Pubmed reference: 20384950. DOI: 10.1111/j.1939-1676.2010.0499.x.
2008 Shearman, JR., Lau, VM., Wilton, AN. :
Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet 39:573, 2008. Pubmed reference: 18557972. DOI: 10.1111/j.1365-2052.2008.01753.x.
2007 Jokinen, T.S., Rusbridge, C., Steffen, F., Viitmaa, R., Syrjä, P., De Lahunta, A., Snellman, M., Cizinauskas, S. :
Cerebellar cortical abiotrophy in Lagotto Romagnolo dogs. J Small Anim Pract 48:470-3, 2007. Pubmed reference: 17490444. DOI: 10.1111/j.1748-5827.2006.00298.x.
2005 Gandini, G., Botteron, C., Brini, E., Fatzer, R., Diana, A., Jaggy, A. :
Cerebellar cortical degeneration in three English bulldogs: clinical and neuropathological findings. J Small Anim Pract 46:291-4, 2005. Pubmed reference: 15971900. DOI: 10.1111/j.1748-5827.2005.tb00323.x.
2002 Sandy, J.R., Slocombe, R.F., Mitten, R.W., Jedwab, D. :
Cerebellar abiotrophy in a family of Border Collie dogs Veterinary Pathology 39:736-738, 2002. Pubmed reference: 12450206.
2000 Kent, M., Glass, E., DeLahunta, A. :
Cerebellar cortical abiotrophy in a beagle Journal of Small Animal Practice 41:321-323, 2000. Pubmed reference: 10976629.
1998 Higgins, R.J., LeCouteur, R.A., Kornegay, J.N., Coates, J.R. :
Late-onset progressive spinocerebellar degeneration in Brittany Spaniel dogs. Acta Neuropathol 96:97-101, 1998. Pubmed reference: 9678519. DOI: 10.1007/s004010050865.
1996 Vite, C.H., Dayrellhart, B., Lexa, F., Kerlin, R., Vanwinkle, T., Steinberg, S.A. :
Atypical disease progression and MR imaging of a Kerry Blue Terrier with cerebellar cortical and extrapyramidal nuclear abiotrophy Progress in Veterinary Neurology 7:12-15, 1996.
1995 Bildfell, R.J., Mitchell, S.K., Delahunta, A. :
Cerebellar cortical degeneration in a labrador retriever Canadian Veterinary Journal 36:570-572, 1995.
1993 Tatalick, L.M., Marks, S.L., Baszler, T.V. :
Cerebellar Abiotrophy Characterized by Granular Cell Loss in a Brittany Veterinary Pathology 30:385-388, 1993. Pubmed reference: 8212464.
1989 Thomas, JB., Robertson, D. :
Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J 66:301-2, 1989. Pubmed reference: 2818374.
1988 Yasuba, M., Okimoto, K., Iida, M., Itakura, C. :
Cerebellar cortical degeneration in beagle dogs. Vet Pathol 25:315-7, 1988. Pubmed reference: 3407102. DOI: 10.1177/030098588802500412.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 02 Nov 2011
  • Changed by Frank Nicholas on 12 Jul 2012
  • Changed by Frank Nicholas on 20 May 2013
  • Changed by Tosso Leeb on 19 Jan 2017
  • Changed by Frank Nicholas on 24 Nov 2017
  • Changed by Imke Tammen2 on 24 Nov 2022
  • Changed by Imke Tammen2 on 26 Nov 2022
  • Changed by Imke Tammen2 on 23 Jun 2023
  • Changed by Imke Tammen2 on 08 Feb 2024
  • Changed by Imke Tammen2 on 15 Jun 2024