Spongy degeneration with cerebellar ataxia type 1 (SDCA1)
Spongy degeneration with cerebellar ataxia type 1 (SDCA1)
General description
Spongy degeneration with cerebellar ataxia (SDCA) is a neurodegenerative disease caused by two known mutations in the KCNJ10 (SDCA1) and ATP1B2 (SDCA2) gene. The puppies with cerebellar dysfunction have early onset of clinical signs (5-8 weeks of age). They show a wide-based ataxic gait, particularly obvious in the hind limbs. Other clinical signs were stumbling, staggering, intention tremor, bunny hopping, muscle spasms, as well as balance loss and falling.
Breeds
Belgian Shepherd Dog, Dutch Shepherd Dog, Groenendael, Laekenois, Malinois, Tervueren
Order details
| Test number | 8610 |
| Abbreviation | SDCA1 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 5-8 weeks |
| Causality | causally |
| Gene | KCNJ10 |
| Mutation | T-C |
| Literature | OMIA:002089-9615 |
Detailed description
Spongy degeneration with cerebellar ataxia (SDCA) is a neurodegenerative disease caused by two known mutations in the KCNJ10 (SDCA1) and ATP1B2 (SDCA2) gene. Clinical signs and histological findings of SDCA were primarily localized to the cerebellum. The puppies with cerebellar dysfunction have early onset of clinical signs (5-8 weeks of age). They show a wide-based ataxic gait, particularly obvious in the hind limbs. Other clinical signs were stumbling, staggering, intention tremor, bunny hopping, muscle spasms, as well as balance loss and falling. SDCA is a progressive disease and the affected dogs are usually euthanised after 12 weeks at the latest.
