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Encephalopathy (Alaskan Husky Type) Overview

Encephalopathy (Alaskan Husky Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: Thiamine transporter 2 (LOC486151) also known as SLC19A3 on Chromosome 25

Variant Detected: Nucleotide insertion and Base Substitution c.624 insTTGC c.625 C>A Frameshift and premature stop codon

Severity: Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Alaskan Husky Encephalopathy (AHE) is a fatal brain disease in young Alaskan Husky (AH) dogs, often affecting multiple dogs from the same litter. Dogs with AHE may have acute onset of clinical signs, or chronic progressive waxing and waning clinical history. Typically, they have multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis.

Research Citation(s): Vernau KM, et al. Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. (2013) PLoS ONE 8(3): e57195.

Associated Breed(s): Alaskan Husky,  Mixed Breed,