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

HEXB

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

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Citations

Rahman MM, Chang HS, Mizukami K, Hossain MA, Yabuki A, Tamura S, Kitagawa M, Mitani S, Higo T, Uddin MM, Uchida K, Yamato O. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J. 2012 Dec;194(3):412-6. doi: 10.1016/j.tvjl.2012.05.021. Epub 2012 Jul 4. PMID: 22766310.

Kolicheski A, Johnson GS, Villani NA, O'Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML. GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. J Vet Intern Med. 2017 Sep;31(5):1520-1526. doi: 10.1111/jvim.14794. Epub 2017 Aug 20. PMID: 28833537; PMCID: PMC5598891.

Wang P, Henthorn PS, Galban E, Lin G, Takedai T, Casal M. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. J Vet Intern Med. 2018 Jan;32(1):340-347. doi: 10.1111/jvim.14862. Epub 2017 Nov 6. PMID: 29106755; PMCID: PMC5787214.

Disclaimer

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