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The Furry Critter Network

Cerebellar and Extrapyramidal Nuclear Abiotrophy - Issue Description

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Issue Name

Cerebellar and Extrapyramidal Nuclear Abiotrophy

Other Names
CA, Cerebellar Cortical Abiotrophy, Cerebellar Abiotrophy, CCA, Neonatal CA, Postnatal CA

Issue Description

The cerebellum is the part of the brain that regulates the control and coordination of movement. In this condition, cells in the cerebellum mature normally before birth, but then deteriorate prematurely causing clinical signs associated with poor coordination and lack of balance. The Purkinje cells in the cerebellum are primarily involved; cells in other areas of the brain may also be affected.

Symptoms

The clinical signs of cerebellar dysfunction in affected dogs 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. 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 behavior change (loss of house training, aggression), confusion, blindness, and seizures.


Diagnosis

This is a rare disorder. The clinical signs are suggestive of cerebellar disease, particularly if they are seen in a breed in which abiotrophy is known to occur. Your veterinarian will do tests to rule out other conditions that can cause similar signs. Routine diagnostic tests are normal with this condition and a definitive diagnosis can only be made by brain biopsy or post-mortem. MRI may be helpful in dogs in which there is gross cerebellar malformation; however generally with this condition, the cerebellum appears grossly normal. Histopathologic abnormalities are often minimal and do not seem to correlate with the severity of cerebellar signs.

Causes

CA is usually an autosomal recessive gene, but in a few breeds, such as the English Pointer, the gene is sex-linked.

Treatment

There is no treatment for this condition. Dogs do not recover from this disorder and usually at some point (depending on the rate of the progressive deterioration that occurs), euthanasia becomes the best option.

Breeds Affected By CA

Neonatal CA (very 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
  • Postnatal CA Cells in the cerebellum are normal at birth and begin to degenerate at variable times thereafter.

  • Australian Kelpie
  • Border Collie
  • Labrador Retriever - Clinical signs are first seen at 6 to 12 weeks, and the condition worsens quickly (over a few weeks).
  • Airedale - There is early onset (12 weeks of age) and a slow progression of clinical signs.
  • Bern Running Dog
  • Bernese Mountain Dog
  • Bull Terrier
  • German Shepherd - Signs are seen by 6 months of age.
  • Gordon Setters - Clinical signs develop at 6 months to 2 years of age, and the progression is slow (months to years).
  • Brittany spaniels - The onset of clinical signs is late (average age 10 years), and the condition progresses slowly.
  • English pointers - Clinical signs develop around 8 to 12 weeks and become pronounced by 16 months of age.
  • Cerebellar and extrapyramidal nuclear abiotrophy Cells in other regions of the brain deteriorate as well.

  • Kerry Blue Terrier - The first signs occur at 6 to 12 weeks and dogs are unable to stand by 1 year of age.
  • Rough-Coated Collie
  • Miniature Poodle - Clinical signs are seen at 4 to 12 weeks of age, and there is rapid deterioration over a few weeks to months.

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