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Alexander Disease
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Alexander Disease
OMIA
1208
Gene Name
GFAP
Mutation
c.719G>A
Mutation 2
g.18572769G>A
Test Type
Genetic Disease/Disorder
Details
Alexander disease is a rare neurodegenerative disorder. Symptoms can include: generalized tremor, general stiffness, spasms and increased spinal reflexes. Age of onset is suspected to be juvenile - under 12 months, but can appear very young 6-8 weeks.
Details 2
Affected Labrador retrievers start to show symptoms by 4 to 6 weeks of age. Symptoms include severe tetraplegia, spastic forelimbs, and mild vestibular signs. Histopathological examination reveals numerous intra-astrocytic Rosenthal fibers in the brain and spinal cord with large GFAP accumulation. Due to the severity of the neurological symptoms, affected puppies usually need to be euthanized.
Published
Van Poucke, M., Martlé, V., Van Brantegem, L., Ducatelle, R., Van Ham, L., Bhatti, S., Peelman, L.J. : A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. Eur J Hum Genet 24:852-6, 2016. Pubmed reference: 26486469. DOI: 10.1038/ejhg.2015.223.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
Labrador Retriever
