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Alaskan Husky Encephalopathy (AHE) is a severe neurodegenerative disease unique to Alaskan Huskies.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 25 |
| Mutation | c.624 insTTGC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Alaskan Husky Encephalopathy (AHE) is a severe neurodegenerative disease unique to Alaskan Huskies. AHE causes neurological deficits such as seizures and loss of coordination, and is ultimately fatal. The disorder is caused by a recessive mutation to the gene SLC19A3. A related variant of the disorder also occurs in the Yorkshire Terrier, where it is known as Juvenile-Onset Necrotizing Encephalopathy.
Caractéristiques cliniques
Onset of AHE typically occurs before 1 year of age, though symptoms can occasionally present later. The main symptoms of the disease are ataxia (loss of coordination), including hypermetria (over-extending limbs while walking) and poor balance. Affected dogs have difficulty eating, may lose vision, and can experience seizures. Due to poor quality of life, euthanasia may be necessary.
Additional Information
Références
Pubmed ID: 23469184
Year published: 2013
Omia ID: 1097
Omia variant ID: 578