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Ataxia (Norwegian Buhund Type)

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Test Overview:

Ataxia (Norwegian buhund type) is an inherited progressive, early-onset neurological disease affecting Norwegian buhunds. Affected dogs present around 3 to 5 months of age with progressive neurological dysfunction due to nerve cell degeneration in a part of the brain known as the Cerebellum. The cerebellum plays an important role in controlling movement. Clinical signs include uncoordinated movement (ataxia), wide-based stance, high-stepping gait, poor balance, and head tremors. Though the speed of progression is variable, affected dogs are often euthanized due to quality-of-life concerns.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

KCNIP4

Variant Detected:

chr3:88890674 (canFam3): T/C

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Jenkins CA, Kalmar L, Matiasek K, Mari L, Kyosila K, Lohi H, Schofield EC, Mellersh CS, De Risio L, Ricketts SL. Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole genome sequencing two affected Norwegian Buhund dogs. Mamm Genome. 2015 Feb;26(1-2):108-17. doi: 10.1007/s00335-014-9547-6. Epub 2014 Oct 30. [PubMed: 31999692]

Associated Breed(s):

Mixed Breed,
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