ISSN 2398-2977      

Neurology: cerebellar abiotrophy

pequis

Synonym(s): Cerebellar cortical abiotrophy


Introduction

  • Cause: autosomal recessive trait in arabian horses and Arabian bloodlines.
  • Signs: ataxia, wide-based stance and intention tremor in foals, usually apparent within the first 6 months of life.
  • Diagnosis: definitive diagnosis based on histopathology of the cerebellum, but high index of suspicion in young arabian foals with characteristic signs of cerebellar dysfunction. Indirect genetic testing available in the US.
  • Treatment: none available.
  • Prognosis: poor for use as riding horses; breeding not advisable due to genetic inheritance.

Pathogenesis

Etiology

  • Autosomal recessive trait, for which the affected gene has not yet been identified.

Specific

  • Breed: predominantly Arabian bloodlines   Arab  .
  • Progeny of dam and sire that are both presumed carriers.

Pathophysiology

  • Defect resulting in progressive, premature degeneration of Purkinje cells in the cerebellum.

Timecourse

  • Affected animals often normal at birth and gradually develop clinical signs within the first 6 months of age.
  • Generally present between 4 weeks and 6 months of age.

Epidemiology

  • Only seen in specific pedigrees.
  • Carrier frequency in Arabs of 19.7%.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Foley A, Grady J, Almes K, Patton K & Davis E (2011) Cerebellar abiotrophy in a 6 year old Arabian mare. Equine Vet Educ 23 (3), 130-134 VetMedResource.
  • Johnson A L (2011) Equine cerebellar abiotrophy: searching the genome for an explanation. Equine Vet Educ 23 (3), 135-137 Wiley Online Library.
  • Blanco A et al (2006) Purkinje cell apoptosis in Arabian horses with cerebellar abiotrophy. J Vet Med 53, 286-287 PubMed.

Other sources of information

  • Mackay R (2008) Neurodegenerative Disorders. In: Equine Neurology. Eds: Furr M & Reed S. Blackwell Publishing, UK. pp 235-255.

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