Cerebellar Ataxia – Finnish Hound
Kodas: H411
Short description
Cerebellar Ataxia (CA) is a rare disorder characterised by progressive cerebellar neurodegeneration.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | SEL1L |
| Chromosome | 8 |
| Mutation | c.1972T>C |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | FHA |
Clinical features
Affected dogs have an uncoordinated gait (ataxia). Ataxia is a neurological symptom of defective motor coordination that can affect gait, balance, speech and gaze.
References
Pubmed ID: 22719266
Year published: 2012
Omia ID: 1692
Omia variant ID:
Turnaround information
- 10 working days