Affected genes: SEL1L
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 8g.53778458A>G c.1972T>C
OMIA link: 001692-9615

Breed: Finnish Hound

Symptoms:
Hereditary ataxias are characterized by a degeneration of cerebellar structures, which results in progressive motor incoordination. Symptoms begin before 3 months of age and affected puppies have difficulty coordinating movement and balance. They should be euthanized due to rapidly worsening symptoms.

References:
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.
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.