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 number8313
AbbreviationAHE
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Age of onsetfrom birth
Causalitycausally
GeneSLC19A3
MutationCOMPLEX
LiteratureOMIA: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.


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