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Spinocerebellar ataxia (SCA) - Alpine Dachsbracke Type
| Acronym: | SCA |
| Gene: | SCN8A |
| Mutation: | c.4898G>T |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Spinocerebellar ataxia (SCA) is a genetic neuropathological and neurodegenerative disease affecting several dog breeds including Alpine Dachsbracke dogs. As for any other neurodegenerative disease, the signs of SCA include tremor, visual defects, seizures and loss of balance due to cerebellar atrophy. The cause of SCA in dogs may be variants in more than 20 genes which have been previously reported, but the most common cause of spinocerebellar ataxia in Alpine Dachsbracke dogs is a mutation in the SCN8A gene located on chromosomes 27. SCN8A encodes a voltage-gated sodium channel which can lead to impaired protein homeostasis, defects in the DNA repair system or mitochondrial dysfunction.
This neurodegenerative disease in Alpine Dachsbracke dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Letko, A., Dietschi, E., Nieburg, M., Jagannathan, V., Gurtner, C., Oevermann, A., & Drögemüller, C. (2019). A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. Genes, 10(5), 362. https://doi.org/10.3390/genes10050362