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Necrotising Encephalopathy, Subacute, of Leigh

Breeds

General

Disease Name
Necrotising Encephalopathy, Subacute, of Leigh
Disease Name 2
Alaskan Husky Encephalopathy
OMIA
1097
Gene Name
SLC19A3
Mutation
c.624 insTTGC
Mutation 2
c.625 C>A
OMIM
161700
OMIM 2
256000
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Leigh Syndrome
Details
Necrotising encephalopathy, subacute, of Leigh, commonly referred to as Alaskan Husky Encephalopathy (AHE) is a brain disease that can potentially occur in any breed, but has been commonly associated in the Alaskan Husky. Signs include: seizures, trouble walking, a high stepping gait, trouble eating, and visual problems. Age of onset/first signs are in juvenile and young adult dogs. The disease is fatal, although some dogs may live for months to years before the signs progress.
Details 2
Alaskan Husky encephalopathy (AHE(1) ) is a fatal brain disease associated with a mutation in SLC19A3.1 (c.624insTTGC, c.625C>A)... The cerebral cortex and thalamus of affected dogs were severely deficient in TPP-dependent enzymes accompanied by decreases in mitochondrial mass and oxidative phosphorylation (OXPHOS) capacity, and increases in oxidative stress. These results along with the behavioral and pathological findings indicate that the phenotype associated with AHE is consistent with a brain-specific thiamine deficiency, leading to brain mitochondrial dysfunction and increased oxidative stress... 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. (Vernau et al, 2013)
Published
Vernau, K.M., Runstadler, J.A., Brown, E.A., Cameron, J.M., Huson, H.J., Higgins, R.J., Ackerley, C., Sturges, B.K., Dickinson, P.J., Puschner, B., Giulivi, C., Shelton, G.D., Robinson, B.H., DiMauro, S., Bollen, A.W., Bannasch, D.L. : Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. PLoS One 8:e57195, 2013. Pubmed reference: 23469184. DOI: 10.1371/journal.pone.0057195.
Published 2
Vernau, K., Napoli, E., Wong, S., Ross-Inta, C., Cameron, J., Bannasch, D., Bollen, A., Dickinson, P., Giulivi, C. : Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1. Brain Pathol 25:441-53, 2015. Pubmed reference: 25117056. DOI: 10.1111/bpa.12188.
Body/System/Process
Neurologic
Inheritance
AR
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