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Cerebellar Ataxia (CA1) is a neurodevelopmental disorder.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 8 |
| Mutation | c.6080-2893_6944+1003del |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | CA1 |
Informazioni generali
Cerebellar Ataxia (CA1) is a neurodevelopmental disorder. It is caused by an autosomal recessive mutation in the Ral GTPase activating protein, alpha subunit 1(RALGAPA1) gene. This gene is involved in the regulation of the activity of two small proteins, RALA and RALB. This regulation is crucial for controlling cellular processes such as growth, migration, and especially neuronal development. RALGAPA1 is highly expressed in areas of the brain that are essential for motor coordination. The mutation causes disruption of normal neuronal signalling and resulting in cerebellar ataxia in specific Belgian shepherd dogs.
Caratteristiche cliniche
Typically cerebellar ataxia manifests around 4 weeks of age. Affected puppies show symptoms such as an uncoordinated gait, wide stance, intention tremors, balance issues, and exaggerated movements (hypermetria). Some mild improvement in function can occur as the dog matures, due to the dog learning to compensate for the deficit with other sensory inputs and motor strategies. Then the dog can have a fairly normal life. Euthanasia can be performed on affected dogs when functional adaptation does not occur in the brain and symptoms are permanent.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 37628572
Year published: 2023
Omia ID: 2757
Omia variant ID: