The detail information of Cerebellar abiotrophy
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: unknown

Mode of inheritance: -

Considered a defect: yes

Year key mutation first reported: -

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB266 Australian Kelpie 43-51 cm Australia
CB147 Labrador Retriever 57.2-62.2 cm (male), 54.6-59.7 cm (female) 29.5-36.3 kg (male), 24.9-31.8 kg (female) Canada, United Kingdom (England)
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.
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.,DeLaHunta,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.,DeRisio,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 .
2012 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 .