Gene involved CAPN1
Mutation tested c.344G>A (LOA)
Transmission mode : Autosomal recessive
Publication : Forman et al. (2013). Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.
Gene involved KCNJ10
Mutation tested c.627C>G (SCA)
Transmission mode : Autosomal recessive
Publication : Gilliam et al. (2014). A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.
Gene involved SCN8A
Mutation tested c.4898G>T
Transmission mode : Autosomal recessive
Publication : Letko et al. (2019). A missense variant in SCN8A in Alpine Dachsbracke dogs affected by spinocerebellar ataxia.
Gene involved PNPLA8
Mutation tested c.1169_1170dupTT
Transmission mode : Autosomal recessive
Publication : Abitbol et al. (2022). A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia.