Spinocerebellar Ataxia, late-onset (LOA)

 

Gene : CAPN1

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, CAPN1 gene; c.344 G>A, p.(C115Y), exon3

Breeds : Parson Russell Terrier

Age of onset of symptoms: between 6 to 12 months of age

Late-onset spinocerebellar ataxia is a progressive neurological disease that occurs between 6 and 12 months of age. Clinical signs include a lack of coordination of limbs and loss of balance; some animals experience behavioral changes and seizures.  The disease primarily affects the cerebellum. Affected animals are often euthanized before reaching 2 years old.

 

References:

OMIA link: [1820-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Stee K, Van Poucke M, Lowrie M, et al. (2023) Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med 37(4):1306-1322. [pubmed/37341581]

Lewis TW, Mellersh CS.  (2019) Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864.  [pubmed/30650096]

Forman OP, DeRisio L, Mellersh CS. (2013) Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell terrier dog breed. Plos One 8(5):e64627. [pubmed/23741357]