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Cerebellar ataxia (CA) is an inherited neurological disorder.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 20 |
| Tipo di Ereditarietà | Fattore di rischio |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
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.
Riferimenti
Pubmed ID: 36292596
Year published: 2022
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