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Alexander Disease (Labrador Retriever Type)

Affected Genes: GFAP

Inheritance: Autosomal Dominant

Variant(canFam6):
chr9:17958211 G>A

Breed: Labrador Retriever

General Information: Alexander Disease (Labrador Retriever Type) is a hereditary neurological disorder that appears in dogs around 6 months to 2 years of age. This condition affects the white matter of the central nervous system, leading to a range of symptoms including difficulty walking, tremors, seizures, and behavioral changes. As the disease progresses, affected dogs may develop muscle weakness, ataxia (loss of coordination), and increased spasticity. The disease is progressive and ultimately results in severe neurological impairment. There is currently no cure for Alexander Disease, and treatment focuses on managing symptoms to improve the quality of life for affected dogs.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the GFAP gene can identify whether a dog is a carrier of Alexander Disease (Labrador Retriever Type). This disease is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for the dog to be affected. Carrier dogs will show symptoms and can pass the mutated gene to their offspring. Breeding decisions should be made carefully to avoid producing affected pups, and genetic testing is crucial for informed breeding practices. Dogs that are not carriers have no increased risk of having pups with the disease.

References:
Van Poucke M, Martlé V, Van Brantegem L, Ducatelle R, Van Ham L, Bhatti S, and Peelman LJ. A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. Case Reports Eur J Hum Genet. 2016 24(6):852-856.