Progressive early-onset cerebellar ataxia / Finnish Hound Ataxia / FHA (SEL1L-related) - Finnish Hound

What does this test analyse?

This genetic test analyses the SEL1L c.1972T>C variant in the Finnish Hound. The disorder is described as progressive early-onset cerebellar ataxia, also known as Cerebellar Ataxia, CA or Finnish Hound Ataxia / FHA.

What does this mean for the dog?

This disorder causes progressive neurodegeneration in the cerebellum, the brain region controlling balance and motor coordination. Affected puppies may show uncoordinated movement, tremors, failure to thrive and rapidly increasing problems with gait and balance at a young age. MRI and pathology describe cerebellar shrinkage and loss of Purkinje cells.

Practical value of this test

• Breeders can distinguish clear dogs, carriers and genetically affected dogs before planning matings.
• The result helps avoid carrier x carrier matings and strongly reduces the risk of affected puppies.
• In young Finnish Hounds with tremors, ataxia or failure to thrive, the test supports a targeted genetic explanation.
• The test gives clear information for breeding selection, sales communication and preservation of healthy lines.

Inheritance and result

The trait is autosomal recessive. T/T means clear, T/C means carrier and C/C causes the genetic form of SEL1L-related progressive early-onset cerebellar ataxia.