€84,70 €70,- hors TVA
Spinocerebellar Ataxia (SCA) is a group of neurological disorders that affect coordination and movement.
25 working days
Excl €5,95 shipping and administration per order (incl. VAT)
Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillon, Tube EDTA de sang, Tube héparine de sang, Paillette de semence, Tissu biologique – biopsie |
| Also known as | SCA |
Informations générales
Spinocerebellar Ataxia (SCA) is a group of neurological disorders that affect coordination and movement. This variant of the disease is associated with a mutation in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene. This gene encodes a receptor involved in calcium signaling within cells and plays an important role in normal neuronal function. The disease follows an autosomal recessive pattern of inheritance and is observed in the Italian Spinone dog.
Caractéristiques cliniques
The disease is characterized by progressive difficulties with coordination and balance, with clinical signs typically appearing at around four months of age. Affected dogs may show an unusually wide-based stance, exaggerated limb movements, swaying of the trunk and impaired balance. Abnormal eye movements (pendular nystagmus) and an absent menace response may also occur. As the disease progresses, muscle tremors may develop and walking or standing can become increasingly difficult. The condition is severe and progressive, with affected dogs may become unable to stand or walk by around one year of age.
Additional Information
Ce test est effectué par un laboratoire externe. CombiBreed assure la médiation entre vous en tant que client et le laboratoire externe. Dans ce cas, CombiBreed ne peut être tenu responsable du comportement du client et/ou du prestataire.
Références
Pubmed ID: 25354648
Year published: 2015
Omia ID: 2097
Omia variant ID: 754