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Cerebellar Ataxia Norwegian Buhund
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Cerebellar Ataxia Norwegian Buhund
OMIA
2240
Gene Name
KCNIP4
Mutation
g.88,890,674T>C
Mutation 2
p.(Trp?Arg)
Test Type
Genetic Disease/Disorder
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.
Published 2
Mari, L., Matiasek, K., Jenkins, C.A., De Stefani, A., Ricketts, S.L., Forman, O., De Risio, L. : Hereditary ataxia in four related Norwegian Buhunds. J Am Vet Med Assoc 253:774-780, 2018. Pubmed reference: 30179085. DOI: 10.2460/javma.253.6.774.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
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.
