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H404

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

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 23469184

Omia ID: 1097

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