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Polioencephalopathy is a hereditary neurological disorder that affects the grey matter of the brain, leading to movement abnormalities and progressive motor dysfunction.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 2 |
| Mutation | c.823A>G |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | PE |
Informazioni generali
Polioencephalopathy is a hereditary neurological disorder that affects the grey matter of the brain, leading to movement abnormalities and progressive motor dysfunction. In Eurasier dogs, this condition has been linked to a mutation in the mitochondrial trans-2-enoyl-CoA reductase (MECR) gene, which plays an important role in normal cellular metabolism. When this gene does not function properly, nerve cells in the brain cannot maintain normal metabolic processes, resulting in neurological impairment. The condition is inherited in an autosomal recessive manner.
Caratteristiche cliniche
Clinical signs typically begin between 2 and 6 months of age. Affected puppies may show episodes of unsteady or wobbly walking (ataxia), exaggerated or high-stepping leg movements (hypermetric gait), muscle spasms (dystonia), or sudden flexing or stretching of the front legs. These episodes often become more frequent and severe over time and may be triggered by excitement, loud noises, or overstimulation. Despite the motor abnormalities, affected dogs generally remain alert and show normal behaviour and awareness.
As motor function continues to deteriorate, affected dogs may struggle with mobility and daily activities. Quality of life can become significantly compromised within a few months to years after symptoms start. Then euthanasia is often considered the most humane option.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 38041431
Year published: 2024
Omia ID: 2814
Omia variant ID: 1658