Late Onset Ataxia
Affected Genes: CAPN1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr18:50617596: C>T
Breed: Jack Russell Terrier
Parson Russell Terrier
Russell Terrier
General Information: Late-onset Ataxia is a hereditary neurologic condition seen in dogs, typically manifesting as incoordination and loss of balance between 6 to 12 months of age, progressing to a distinct "prancing" gait and frequent falls. As the disease advances, affected dogs struggle to stand and are often euthanized by 2 years old due to declining quality of life.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the CAPN1 gene identifies carriers of late-onset Ataxia, which is inherited in dogs through an Autosomal Recessive pattern, requiring two copies of the mutated gene for disease manifestation. While carrier dogs typically show no signs of the disease, breeding between carriers poses a risk of producing affected offspring, with each pup from such a pairing having a 25% chance of inheriting the disease. Reliable genetic testing is crucial for guiding breeding decisions to prevent the transmission of this mutation and the production of affected pups, thereby safeguarding the health of future generations.
References:
Forman OP, De Risio L, Mellersh CS. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed. PLoS One 2013 8(5):e64627.