Subacute Necrotizing Encephalopathy (SNE) – Yorkshire Terrier
Kodas: H092
Short description
Subacute Necrotizing Encephalopathy (SNE) in the Yorkshire Terrier is a hereditary neurological disorder caused by an autosomal recessive mutation in the Solute Carrier Family 19 Member 3 (SLC19A3) gene.
General information
Subacute Necrotizing Encephalopathy (SNE) in the Yorkshire Terrier is a hereditary neurological disorder caused by an autosomal recessive mutation in the Solute Carrier Family 19 Member 3 (SLC19A3) gene. This gene is involved in the transport of thiamine (vitamin B1) into cells, which is essential for normal energy metabolism in the brain. When SLC19A3 function is impaired, neuronal cells cannot efficiently utilize energy, leading to progressive neurological dysfunction.
Specifications
| Breeds | |
|---|---|
| Gene | SLC19A3 |
| Chromosome | 25 |
| Mutation | c.205_210delinsN[35] |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected dogs typically develop clinical signs in early life, often within the first months to years. Neurological signs may include seizures, ataxia (loss of coordination), behavioral changes, altered mentation, and progressive neurological decline. As the disease progresses, affected dogs may show worsening motor function, difficulty walking, and episodes of collapse. The condition is progressive and can severely impact quality of life, often leading to significant neurological impairment over time.
References
Pubmed ID: 33081289
Year published: 2020
Omia ID: 1097
Omia variant ID:
Turnaround information
- 10 working days