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Cerebellar ataxia (CA) is an inherited neurological disorder.
10 Arbeidsdager
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Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mode of Inheritance | Risikofaktor |
| Organ | |
| Specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
Generell informasjon
Cerebellar ataxia (CA) is an inherited neurological disorder. The condition affects the cerebellum, the part of the brain responsible for coordination and balance. Degeneration of cerebellar neurons leads to impaired motor control and loss of coordinated movement. This specific variant, identified in working Kelpie, has an early onset and associated with a mutation in the LINGO3 gene.
Kliniske egenskaper
Affected dogs typically show signs at a young age, often from a few weeks to months old. Clinical signs include uncoordinated movement (ataxia), an unsteady or exaggerated gait, head and body tremors, and difficulty maintaining balance. Dogs may also have trouble with normal activities such as walking, eating, or drinking due to impaired motor control. The condition can range from mild to severe, with progressive neurological dysfunction that may significantly impact quality of life.
Tilleggsinformasjon
This variant acts as a risk-associated marker. Only individuals homozygous for the variant have an increased risk of developing CA. In one study of 224 dogs, 12 were homozygous for the variant, of which 9/12 showed clinical signs of cerebellar ataxia.
Referanser
Pubmed ID: 36292596
Year published: 2022
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