Cerebellar abiotrophy

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Multifocal thinning of the cerebellar folia in a Boxer dog affected by cerebellar abiotrophy[1]

Cerebellar abiotrophy is an autosomal-recessive genetic neurological disease characterized by cerebellar degeneration and ataxia.

The term is used to describe premature degeneration of fully formed cerebellar neurons caused by an intrinsic metabolic defect (literally the loss of a vital nutritive factor)[2]. Cerebellar abiotrophies typically involve a primary degeneration or loss of Purkinje neurons, variable loss of granule cells, and cortical astrogliosis[3].

Cerebellar abiotrophy differs from cerebellar hypoplasia, which involves abnormal development of germinal populations of neuroepithelial cells[4].

The disease, which has been observed in cats, sheep, cattle, pigs, horses, and alpacas, has also been reported in a number of dog breeds.


Breeds of dogs with a predisposition to cerebellar abiotrophy[5]

Breed Age of onset Neurological signs Associated condition
Airedale Terrier < 6 months Progressive
American Staffordshire Terrier 1.5 - 9 years Slowly progressive
Australian Kelpie[6] 6 - 12 years Progressive
Bavarian Mountain Dog 3 - 7 months Slowly progressive cerebellar Purkinje cell degeneration
Beagle 3 weeks Progressive
Bernese Mountain Dog 4 - 16 weeks Progressive hepatocerebellar degeneration[7]
Border Collie 6 - 16 weeks Progressive
Brittany Spaniel[8] 7 - 13 years Slowly progressive
Bullmastiff 4 - 28 weeks Progressive
Chinese Crested 3 - 6 months Slowly progressive
Coton de Tulear 8/2 weeks Progressive/Non-progressive
English Bulldog 8 - 12 weeks Slowly progressive
Finnish Harrier < 6 months Progressive cerebellar Purkinje cell degeneration
Gordon Setter[9] 6 - 10 months Slowly progressive
Irish Setter 3 - 10 days Progressive
Jack Russell Terrier 2 weeks Progressive
Kerry Blue Terrier[10] 8 - 16 weeks Progressive
Labrador Retriever 12 weeks Rapidly progressive
Lagotto Romagnolo[11] 10 - 15 weeks Rapidly progressive
Miniature Poodle 3 - 4 weeks Unknown
Miniature Schnauzer[12] 6 - 16 weeks Progressive
Papillon[13] 8 - 12 weeks Progressive
Rhodesian Ridgeback Birth Progressive Color dilution alopecia[14]
Rough Coated Collie 4 - 8 weeks May stabilize
Samoyed Birth - 6 months Slowly progressive

Clinically affected dogs are normal at birth and present at an older age with hindlimb ataxia, head tilt, head pressing, intentional tremors, seizures and progressive proprioceptive deficits resulting in collapse[1].

Blood tests, CSF analysis and computed tomography are usually unrewarding.

Culturing of CSF fluid is recommended to eliminate infectious causes such as canine distemper virus, Tick-borne encephalitis virus, Borrelia burgdorferi, Neospora caninum, Toxoplasma gondii, Anaplasma phagocytophilum, Ehrlichia canis, Rickettsia spp and Cryptococcus spp.

Definitive diagnosis usually requires histological examination of brain tissue, which typically shows primary degeneration or loss of Purkinje neurons, variable loss of granule cells, and cortical astrogliosis[15]. PCR testing of brain tissue for canine parvovirus DNA is essential to exclude this as a cause of disease.

A differential diagnosis would include otitis media, myotonia congenita, neuroaxonal dystrophy, cerebellar hypoplasia, glucocerebrosidosis and ceroid lipofuscinosis[16].

There is no known treatment for this disease and severely affected dog usually require euthanasia, however, this disease is not always fatal and mildly affected dogs can lead a relatively normal life.

References

  1. 1.0 1.1 Gumber S et al (2010) Late onset of cerebellar abiotrophy in a boxer dog. Vet Med Int 2010:406275
  2. de Lahunta A (1990) Abiotrophy in domestic animals: a review. Can J Vet Res 54(1):65–76
  3. de Lahunta, A & Glass, E (2009) Cerebellum; in Veterinary Neuroanatomy and Clinical Neurology, A. De Lahunta and E. Glass, Eds., pp:343–388, Elsevier, St. Louis, Mo, USA
  4. Summers BA et al (1995) Degenerative diseases of the central nervous system. In: Summers BA, Cummings JF, De Lahunta A, editors. Veterinary Neuropathology. St. Louis, Mo, USA: Mosby-Year Book. pp:300–305
  5. Adapted from Dewey, CW (2008) A practical guide to canine and feline neurology. Iowa State University Press, Iowa. 2nd edition. pp:300
  6. Shearman JR et al (2011) Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet 42(6):675-678
  7. Carmichael KP et al (1996) Clinical, hematologic, and biochemical features of a syndrome in Bernese Mountain Dogs characterized by hepatocerebellar degeneration. J Am Vet Med Assoc 208:1277–1279
  8. Higgins RJ et al (1998) Late-onset progressive spinocerebellar degeneration in Brittany Spaniel dogs. Acta Neuropathol 96:97–101
  9. de Lahunta A et al (1980) Hereditary cerebellar cortical abiotrophy in the Gordon setter. J Am Vet Med Assoc 177:538–541
  10. deLahunta A & Averill DR (1976) Hereditary cerebellar cortical and extrapyramidal nuclear abiotrophy in Kerry Blue Terriers. J Am Vet Med Assoc 168:1119–1124
  11. Jokinen TS et al (2007) Cerebellar cortical abiotrophy in Lagotto Romagnolo dogs. J Small Anim Pract 48(8):470-473
  12. Berry ML & Blas-Machado U (2003) Cerebellar abiotrophy in a miniature schnauzer. Can Vet J 44(8):657-659
  13. Nibe K et al (2007) Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci 69(10):1047-1052
  14. Chieffo C et al (1994) Cerebellar Purkinje's cell degeneration and coat color dilution in a family of Rhodesian Ridgeback dogs. J Vet Intern Med 8:112–116
  15. De Lahunta A & Glass E (2009) Cerebellum. In: De Lahunta A, Glass E, editors. Veterinary Neuroanatomy and Clinical Neurology. St. Louis, Mo, USA: Elsevier. pp:343–388
  16. Nibe K et al (2010) Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. J Vet Med Sci 72(11):1495-1499