Gene involved KCNJ10
Mutation tested c.986T>C (SDCA1)
Transmission mode : Autosomal recessive
Publication :
Mauri et al. (2017). A missense variant in KCNJ10 in Belgian Shepherd dogs affected by spongy degeneration with cerebellar ataxia (SDCA1).
Stee et al. (2022). Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.
Gene involved ATP1B2
Mutation tested c.130_131ins227 (SDCA2)
Transmission mode : Autosomal recessive
Publication : Mauri et al. (2017). A SINE insertion in ATP1B2 in Belgian Shepherd dogs affected by spongy degeneration with cerebellar ataxia (SDCA2).