Deutsch
Hrvatski
Русский
Português
SDCA1 – Cerebellar Ataxia Belgian Shepherd Type
| Acronym: | SDCA1 |
| Gene: | KCNJ10 |
| Mutation: | c.986T>C |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Spongy degeneration with cerebellar ataxia (SDCA) is a severe genetic neurodegenerative disease affecting several dog breeds including Malinois dogs, one of the four varieties of the Belgian Shepherd breed. As for any other neurodegenerative disease, the signs of SDCA include tremors, seizures, and loss of balance due to cerebellar atrophy, but this specific disease is also characterized by spongy lesions in the central nervous system (CNS), mainly in the spinal cord, but not in the cerebellum. Cerebellar ataxia is caused by a missense variant in the KCNJ10 gene encoding a potassium channel which is expressed in the CNS, eye, inner ear, and kidney. In CNS, KCNJ10 plays a major role in modulating neuronal cells resting membrane potential through a process named potassium spatial buffering that is important for the regulation of extracellular potassium.
This neurodegenerative disorder in Belgian Shepherd 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:
Mauri, N., Kleiter, M., Leschnik, M., Högler, S., Dietschi, E., Wiedmer, M., Dietrich, J., Henke, D., Steffen, F., Schuller, S., Gurtner, C., Stokar-Regenscheit, N., OToole, D., Bilzer, T., Herden, C., Oevermann, A., Jagannathan, V., Leeb, T. (2017). A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 (Bethesda, Md.), 7(2), 663–669. https://doi.org/10.1534/g3.116.038455