Spongy degeneration with cerebellar ataxia type 2 (SDCA2)

LABOKLIN Service ID: 8582

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.

Method	FLP
Breed list	Belgian Shepherd Dog, Dutch Shepherd Dog, Groenendael, Laekenois, Malinois, Tervueren
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab