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.
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.
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