Cerebellar Ataxia, early-onset

 

Gene: SEL1L

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, SEL1L gene; c.1972 T>C, p.(S658P)

Medical system: Nervous

Breed: Finnish Hound

Age of onset of symptoms: Around the age of 3 months

Ataxia refers to a neurological condition characterized by a lack of coordination of muscle movements.  Cerebellar ataxia in the Finnish Hound is a progressive degenerative disease of the Purkinje cells of the cerebellum that results in a lack of motor coordination. The first clinical signs appear around the age of 3 months and the disease usually progresses very quickly. Affected puppies have difficulty controlling their movements and keeping their balance; these animals are usually euthanized for humanitarian reasons.

Ataxia in dogs is a general diagnosis and can have both environmental and genetic causes. Depending on the dog breed, genetic defects in numerous genes, including ATP1B2, CAPN1, GRM1, ITPR1, KCNJ10, RAB24, SEL1L, SNX14, and SPTBN2, can result in ataxia.

 

References:

OMIA link: [1692-9615]

Stee K, Van Poucke M, Lowrie M, et al. (2023) Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med. [pubmed/37341581]

Kyostila K, Cizinauskas S, Seppälä EH, et al. (2012) A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. Plos Genetics 8(6)e1002759. [pubmed/22719266]