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Cerebellar Ataxia (CA) is a rare disorder characterised by progressive cerebellar neurodegeneration.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.1972T>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | FHA |
Informations générales
Cerebellar Ataxia (CA) is a rare disorder characterised by progressive cerebellar neurodegeneration. CA is characterised by degeneration of the cerebellar structures, which results in progressive motor incoordination. This variant of the disorder, found in the Finnish Hound, is also known as Finnish Hound Ataxia (FHA). It is caused by a recessive mutation to the gene SEL1L.
Caractéristiques cliniques
Les chiens affectés ont une démarche non coordonnée (ataxie). L’ataxie est un symptôme neurologique de la coordination motrice défectueuse qui peut affecter la démarche, l’équilibre, la parole et le regard.
Additional Information
Références
Pubmed ID: 22719266
Year published: 2012
Omia ID: 1692
Omia variant ID: 28