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Cerebellar Ataxia (CA) is a rare disorder characterised by progressive cerebellar neurodegeneration.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
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| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
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Informazioni generali
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.
Caratteristiche cliniche
I cani colpiti hanno un'andatura non coordinata (ataxia). L'atassia è un sintomo neurologico di coordinazione motoria difettosa che può influenzare andatura, equilibrio, parola e sguardo.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 22719266
Omia ID: 1692