Disease overview

Alexander Disease is a brain and spinal cord condition that leads to astrocyte dysfunction. Astrocytes are cells within the central nervous system that surround and protect neurons and serve to supply nutrients and repair functions.

Gene name

GFAP

Inheritance

Autosomal dominant

Signs and symptoms

Affected puppies present with clinical signs such as weakness or paralysis, as well as spastic front limbs.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Van Poucke M, Martlé V, Van Brantegem L, Ducatelle R, Van Ham L, Bhatti S, Peelman LJ. A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. Eur J Hum Genet. 2016 Jun;24(6):852-6. doi: 10.1038/ejhg.2015.223. Epub 2015 Oct 21. PMID: 26486469; PMCID: PMC4867461.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.