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Spastic Ataxia in Great Pyrenees is a hereditary neurological disorder caused by an autosomal recessive mutation in the Sacsin molecular chaperone (SACS) gene, leading to progressive neurodegeneration similar to that seen in cerebellar abiotrophy (CA).
10 Arbeidsdager
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Spesifikasjoner
| Breeds | |
|---|---|
| Organ | |
| Gene | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Automatisk resessiv |
| Chromosome | 25 |
| Mutation | c.12731_12734del |
Generell informasjon
Spastic Ataxia in Great Pyrenees is a hereditary neurological disorder caused by an autosomal recessive mutation in the Sacsin molecular chaperone (SACS) gene, leading to progressive neurodegeneration similar to that seen in cerebellar abiotrophy (CA). This gene plays a critical role in the health of long nerve fibers in the brain and spinal cord. The mutation leads to the degradation of these long nerve fibers, leading to loss of coordination and movement problems. The disorder is similar to the human spastic ataxia of Charlevoix-Saguenay (ARSACS).
Kliniske egenskaper
Affected dogs typically begin showing symptoms around 4 months of age, including clumsiness, uncoordinated movements, tremors and difficulty walking—especially on slippery surfaces. They may appear reluctant to climb stairs or jump, often leaning on walls or fences for support and preferring to lie down frequently. As the disease progresses, dogs develop increasing hind limb weakness, balance issues, and general muscle stiffness. Most dogs gradually lose mobility and are euthanized between 4 to 7 years of age due to the progressive nature of the condition.
Tilleggsinformasjon
Referanser
Pubmed ID: 37758910
Year published: 2023
Omia ID: 2780
Omia variant ID: