OMIA 000175-9615 : Cerebellar abiotrophy in Canis lupus familiaris

In other species: domestic cat , horse , cattle , goat , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 600224 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

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

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 below), maps to chromosome CFA18.

Breeds: Australian Working Kelpie, Kelpie, Labrador Retriever.


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.
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.
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 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 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.
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.
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.

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