DonateCerebellar Ataxia Norwegian Buhund
Breed: Bohemian Spotted Dog
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Cerebellar Ataxia Norwegian Buhund
Mutation
g.88,890,674T>C
Mutation 2
p.(Trp?Arg)
Details
This form of Cerebellar Ataxia is progressive, causing uncoordinated movements and head tremors, with no known effective treatment. Age of onset reported as young as 12 weeks. Affected animals are often euthanized on welfare grounds.
Details 2
This form of Cerebellar Ataxia is progressive, causing uncoordinated movements and head tremors, with no known effective treatment. Age of onset reported as young as 12 weeks. Affected animals are often euthanized on welfare grounds.
Published
Jenkins, C.A., Kalmar, L., Matiasek, K., Mari, L., Kyöstilä, K., Lohi, H., Schofield, E.C., Mellersh, C.S., De Risio, L., Ricketts, S.L. : Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet 16:e1008527, 2020. Pubmed reference: 31999692. DOI: 10.1371/journal.pgen.1008527.
Breed Specific Info
Researched Breeds
Norwegian Buhund
Breed-specific 1
Norwegian Buhund
Breed-specific 1 Details
Jenkins, C.A., Kalmar, L., Matiasek, K., Mari, L., Kyöstilä, K., Lohi, H., Schofield, E.C., Mellersh, C.S., De Risio, L., Ricketts, S.L. : Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet 16:e1008527, 2020. Pubmed reference: 31999692. DOI: 10.1371/journal.pgen.1008527.
