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Alaskan Husky Encephalopathy (AHE)

Code: H404

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Alaskan Husky Encephalopathy (AHE) is a severe neurodegenerative disease unique to Alaskan Huskies.

General information

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.

Specifications

Breeds

Alaskan Malamute
Gene

SLC19A3
Chromosome

25
Mutation

c.624 insTTGC
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive

Clinical features

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.

References

Pubmed ID: 23469184

Year published: 2013

Omia ID: 1097

Omia variant ID:

Turnaround information

  • 15 working days