Description: Alaskan Husky Encephalopathy (AHE) is a fatal brain disease in young Alaskan husky. Based on clinical and neuropathological similarities to Leigh’s syndrome (LS) in humans, AHE has been proposed as mitochondrial encephalopathy. Human LS includes a group of diseases with heterogeneous clinical symptoms, usually characterized by an increase in blood lactate levels and respiratory chain enzyme dysfunctions, and due to various mutations in either nuclear or mitochondrial DNA.
Dogs with AHE may have an acute onset of clinical signs or chronic progressive attenuation of the body. They usually have disorders of the central nervous system, including seizures, altered mentality, dysphagia, lack of threat response, central blindness, hypermetry, movement coordination deficit, facial hypoalgesia, ataxia, and tetraparesis.
Inheritance: autosomal recessive
Mutation: c.624 insTTGC in SLC19A3.1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: