Disease overview

Gangliosidosis is an inherited lysosomal storage disease. Lysosomes are important components of cells that are crucial for the breakdown and recycling of waste. If lysosomes do not function properly, waste accumulates and leads to cell death. This disease results in a buildup of a fatty substance called ganglioside, due to insufficient activity of the enzyme hexosaminidase a\A. It is a multisystem disease; however, ganglioside accumulates primarily in cells throughout the nervous system.

Gene name

HEXA

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs typically present with neurological signs such as difficulty walking (ataxia), altered mentation, seizures, deafness, and blindness. These signs generally occur around 12 to 18 months of age.

How is it diagnosed

Clinical signs such as ataxia or seizures are generally only suggestive, as there are many other disease processes with similar presentation. Veterinarians are likely to order an MRI or CT scan of the brain. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Sanders DN, Zeng R, Wenger DA, Johnson GS, Johnson GC, Decker JE, Katz ML, Platt SR, O'Brien DP. GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab. 2013 Jan;108(1):70-5. doi: 10.1016/j.ymgme.2012.11.008. Epub 2012 Nov 27. PMID: 23266199. Freeman AC, Platt SR, Vandenberg M, Holmes S, Kent M, Rech R, Howerth E, Mishra S, O'Brien DP, Wenger D. GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. J Vet Intern Med. 2013 Jul-Aug;27(4):771-6. doi: 10.1111/jvim.12118. Epub 2013 Jun 3. PMID: 23731274.

Disclaimer

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