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Canine Multiple System Degeneration (CMSD) is a progressive, heritable neurological disorder.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 1 |
| Mutation | c.1536G>A |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | CMSD |
Informazioni generali
Canine Multiple System Degeneration (CMSD) is a progressive, heritable neurological disorder. It is caused by a mutation in the Serine Active Site Containing 1 (SERAC1) gene and is inherited in an autosomal recessive manner. The mutation in the SERAC1 gene causes disruption of phospholipid remodeling and cholesterol trafficking, which are essential for healthy mitochondrial function and neuronal survival. This leads to degeneration of specific brain regions, resulting in the progressive movement disorder seen in Kerry Blue Terriers.
Caratteristiche cliniche
Symptoms typically start in early puppyhood (3–6 months) and include head tremors, an unsteady “goose‑stepping” gait, poor balance, frequent falling, and abnormal eye movements. Despite these severe motor problems, affected dogs remain mentally alert and socially interactive. The condition progresses rapidly, leading to severe disability by 1–2 years of age. Most affected dogs are then unable to walk or stand safely and humane euthanasia decisions are made due to motor symptoms becoming overwhelming.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 38003185
Year published: 2023
Omia ID: 1468
Omia variant ID: 1581