Alaskan Husky enzephalopathy (AHE)
Alaskan Husky enzephalopathy (AHE)
General description
AHE is associated with multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis.
Breeds
Siberian Husky
Order details
| Test number | 8313 |
| Abbreviation | AHE |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | SLC19A3 |
| Mutation | COMPLEX |
| Literature | OMIA:001097-9615 |
Detailed description
A fatal brain disease known as Alaskan Husky encephalopathy (AHE) is found in Husky breeds. The disorder correlates to the Leigh syndrome (LS) found in humans, that includes a group of diseases with heterogenous clinical symptoms. For AHE affected dogs clinical findings consist of multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis. In contrast to LS in humans, AHE in dogs is not a primary mitochondrial encephalopathy, but correlates with a genetic defect in a thiamine transporter.
