Cerebellar Ataxia (Finnish Hound Type)

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Test Overview:

Cerebellar Ataxia (Finnish hound type) 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 which causes ataxia. 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.

Category:

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

Gene:

SEL1L

Variant Detected:

chr8:53778458 (canFam3): T>C

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):

Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. [PubMed: 27525650] Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet. 2012; 8(6):e1002759. [PubMed: 22719266]

Associated Breed(s):

Finnish Hound, Mixed Breed,