Disease Description: Malformation of the neurons in the cerebellum, a part of the brain.
Inherit Mode: Inheritance is autosomal recessive. The defective gene has been identified and causes a defect in glutamate metabolism. (For more information, see cerebellar abiotrophy Online Mendelian Inheritance in Animals (OMIA). Faculty of Veterinary Science, University of Sydney. 2011.
Disease Symptom: Because the cerebellum regulates the control and coordination of voluntary movement, the clinical signs of cerebellar dysfunction may include poor balance, a wide-based stance (feet planted far apart), stiff or high-stepping gait, apparent lack of awareness of where the feet are (standing or walking with a foot knuckled over), and head or body tremors. Signs may appear at birth or later (as listed below) and worsen either quickly or slowly. Affected dogs may become unable to climb stairs or stand without support. They have normal mental alertness. Where other regions of the brain are also affected, you may see signs such as behaviour change (loss of house training, aggression), confusion, blindness, and seizures. Neonatal cerebellar abiotrophy (rare) - Affected cells start to degenerate before birth, so that signs of cerebellar dysfunction are present at birth or when the pup first walks - Beagle, samoyed. Early onset(birth to ~6 weeks): Airedale terrier, beagle, collie (rough), coton de tulear, Finnish harrier, Jack Russell terrier, Irish setter, miniature poodle, Rhodesian ridgeback, and samoyed. Onset at 6 weeks to 6 month: Australian kelpie, Bernese mountain dog, border collie, bull mastiff, coton de tulear, Gordon setter, Kerry blue terrier, and Labrador retriever. Later onset: Brittany spaniel, Gordon setter, old English sheepdog. Clinical signs progress slowly (months to years).
Disease Cause: -
Disease Diagnose: Typically, pups are normal at birth and then begin to develop signs consistent with cerebellar disease (as listed above) at varying ages, depending upon the breed. The diagnosis is based on the clinical signs, breed, and age of onset. Your veterinarian will also do tests to rule out other conditions that can cause similar signs. It is important to differentiate this disorder from cerebellar hypoplasia, which is a non-progressive disorder (ie., does not worsen over time).
Treat Method: There is no treatment for this condition. Dogs do not recover from this disorder and usually at some point (which varies with the rate of progressive deterioration), euthanasia becomes the best option.
Breeder Advice: Affected dogs, their parents (carriers of the trait), and their siblings (50% chance of being a carrier) should not be bred.
Disease Description Source: Link
Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
---|---|---|---|---|---|
Cerebellar abiotrophy | - | - | - | ||
Cerebellar cortical atrophy | - | Autosomal Recessive | - | - |
iDog Breed Number | Breed Name | Personality | Height | Weight | Breed Source |
---|---|---|---|---|---|
CB3 | Airedale Terrier | Clever, confident, proud; friendly but courageous | 58.4 cm | 22.7-31.8 kg | United Kingdom (England) |
CB24 | English Beagle | Merry, friendly, and curious | 33 cm & under 33-38.1 cm | under 9.1 kg (5.9 inches & under), 9.1-13.6 kg (5.9-6.8 inches) | United Kingdom (England) |
CB34 | Bernese Mountain Dog | Good-natured and calm. | 63.5-71.1 cm (male), 58.4-66 cm (female) | 39-49.9 kg (male), 35.8-49.9 kg (female) | Switzerland |
CB43 | Border Collie | Affectionate, Smart, Energetic | 48.3-55.9 cm (male), 45.7-53.3 cm (female) | 13.6-20.4 kg (male), 12.2-19.1 kg (female) | United Kingdom (Scotland, England, Wales) |
CB54 | Brittany | Bright, upbeat, fun-loving at home; a tireless, enthusiastic worker afield | 44.5-52.1 cm | 13.6-18.1 kg | France |
CB59 | Bullmastiff | Affectionate, Loyal, Brave | 25-27 inches (male), 24-26 inches (female) | 110-130 pounds (male), 100-120 pounds (female) | United Kingdom (England) |
CB75 | Chow Chow | Serious-minded, dignified, bright, and aloof | 43.2-50.8 cm | 20.4-31.8 kg | China |
CB79 | Collie | Graceful, devoted, and proud | 61-66 cm (male), 55.9-61 cm (female) | 27.2-34 kg (male), 22.7-29.5 kg (female) | |
CB80 | Coton de Tulear | Bright, happy-go-lucky, endlessly charming; born to love and to be loved | 25.4-27.9 cm (male), 22.9-25.4 cm (female) | 4.1-6.8 kg (male), 3.6-5.9 kg (female) | Madagascar |
CB117 | Gordon Setter | Bold, confident, and resolute afield; sweetly affectionate by the fireside | 61-68.6 cm (male), 58.4-66 cm (female) | 24.9-36.3 kg (male), 20.4-31.8 kg (female) | United Kingdom (Scotland) |
CB118 | Grand Basset Griffon Vendeen | Happy and sociable at home, stubborn and tenacious at work | 39.4-45.7 cm | 18.1-20.4 kg | France |
CB124 | Harrier | Outgoing and friendly; true pack hounds, get on well with other dogs | 48.3-53.3 cm | 20.4-27.2 kg | United Kingdom |
CB131 | Irish Setter | Outgoing, sweet-natured, active, and trainable | 68.6 cm (male), 63.5 cm (female) | 31.8 kg (male), 27.2 kg (female) | Ireland |
CB142 | Irish Blue Terrier | Smart and alert; people oriented, with a dash of Irish humor in his heart | 45.7-49.5 cm (male), 44.5-48.3 cm (female) | 15-18.1 kg (male), females weigh slightly less than males | Ireland |
CB147 | Labrador Retriever | Friendly and outgoing, Labs play well with others | 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) |
CB174 | Old English Shepherd Dog | Adaptable, smart, gentle; OES are famous for their sweet, agreeable nature | 55.9 cm & up (male), 53.3 cm & up (female) | 27.2-45.4 kg | United Kingdom (England) |
CB177 | Parson Russell Terrier | Bold, friendly, athletic, and clever | 35.6 cm (male), 33 cm (female) | 5.9-7.7 kg | United Kingdom (England) |
CB204 | Rhodesian Ridgeback | Dignified, even tempered; affectionate toward loved ones, reserved with strangers | 63.5-68.6 cm (male), 61-66 cm (female) | 38.6 kg (male), 31.8 kg (female) | Zimbabwe |
CB205 | Rottweiler | Reserved with strangers and affectionate and loyal with his family. | 61-68.6 cm (male), 55.9-63.5 cm (female) | 49.9-59 kg (male), 34.9-49.9 kg (female) | Germany |
CB210 | Samoyed | Gentle, adaptable, eager, friendly; conservative but never shy | 53.3-59.7 cm (male), 48.3-53.3 cm (female) | 20.4-29.5 kg (male), 15.9-22.7 kg (female) | Russia |
CB266 | Australian Kelpie | Alert, eager and highly intelligent, with an inexhaustible energy, loyalty and devotion to duty. | 43-51 cm | Australia | |
CB268 | Miniature Poodle | Intelligent, Eager-to-please , Charming companion | 25-38 cm | 4.5-6.8kg | France&Germany |
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 . |
2007 |
Bailey KS. :
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2007 |
Nibe,K.,Kita,C.,Morozumi,M.,Awamura,Y.,Tamura,S.,Okuno,S.,Kobayashi,T.,Uchida,K.: :
Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci 69:1047-52, 2007. Pubmed reference: 17984592 . |
2006 |
Buijtels,J.J.,Kroeze,E.J.,Voorhout,G.,Schellens,C.J.,vanNes,J.J.: :
[Cerebellar cortical degeneration in an American Staffordshire terrier]. Tijdschr Diergeneeskd 131:518-22, 2006. Pubmed reference: 16916197 . |
2004 |
Sargan DR. :
IDID-Inherited diseases in dogs.web-based information for canine inherited disease genetics. Marmm Genome. 2004 Jun;15(6):503-506. |
2004 |
Olby,N.,Blot,S.,Thibaud,JL.,Phillips,J.,O'Brien,DP.,Burr,J.,Berg,J.,Brown,T.,Breen,M.: :
Cerebellar cortical degeneration in adult American Staffordshire Terriers. J Vet Intern Med 18:201-8, 2004. Pubmed reference: 15058771 . |
2003 |
Hanzlicek,D.,Kathmann,I.,Bley,T.,Srenk,P.,Botteron,C.,Gaillard,C.,Jaggy,A.: :
[Cerebellar cortical abiotrophy in American Staffordshire terriers: clinical and pathological description of 3 cases] Schweizer Archiv fur Tierheilkunde 145:369-75, 2003. Pubmed reference: 12951908 . |
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 . |
2000 |
van,Tongeren,S.E.,van,Vonderen,I.K.,van,Nes,J.J.,van,den,Ingh,T.S.G.A.M.: :
Cerebellar cortical abiotrophy in two Portuguese Podenco littermates Veterinary Quarterly 22:172-174, 2000. Pubmed reference: 10952450 . |
1996 |
Coates JR. Weeble, Wobble, Roly, Poly :
A Study of Cerevellar Disease. Proc. ACVIM Forum 684-687. |
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 . |
1991 |
Perille,A.L.,Baer,K.,Joseph,R.J.,Carrillo,J.M.,Averill,D.R.: :
Postnatal Cerebellar Cortical Degeneration in Labrador Retriever Puppies Canadian Veterinary Journal - Revue Veterinaire Canadienne 32:619-621, 1991. |
1989 |
Thomas,JB.,Robertson,D.: :
Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J 66:301-2, 1989. Pubmed reference: 2818374 . |