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Cerebellar Ataxia (Finnish Hound Type)

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Description:

This is a progressive, early onset, inherited disease affecting Finnish hound dogs. Symptoms are usually present by three months of age and progress quickly. Affected dogs have marked degeneration of the cerebellum, an area in the brain responsible fro motor coordination. These dogs have difficulty controlling leg movements and keeping their balance. Changes to the cerebellum can usually be identified via MRI. Ataxia eventually limits the dog’s ability to eat and affected dogs are often euthanized. One study estimated 10% of Finnish Hounds are carriers of this disease.

Category:

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

Gene:

SEL1L ERAD E3 ligase adaptor subunit (SEL1L) on chromosome 8

Variant Detected:

Base Substitution c.1972T>C Ser568Pro

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Kyöstilä K, et al. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. (2012) PLoS Genet. 8(6): e1002759

Associated Breed(s):

Finnish Hound, Mixed Breed,

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