Cerebellar Ataxia (LINGO3-related) – Kelpie
Kodas: H098
Short description
Cerebellar ataxia (CA) is an inherited neurological disorder.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | LINGO3 |
| Chromosome | 20 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Risk Factor |
Clinical features
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.
Additional information
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.
References
Pubmed ID: 36292596
Year published: 2022
Omia ID:
Omia variant ID:
Turnaround information
- 10 working days