Disease overview

Lysosomes are structures within a cell that function in waste disposal and recycling. If the lysosome is dysfunctional it leads to accumulation of waste which can cause the cell to die. Fucidosis is a build-up of fucose in cells that can cause neurologic dysfunction.

Gene name

FUCA1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs typically present with neurological signs including difficulty walking (ataxia), altered behavior, seizures, weight loss, difficulty eating and vision loss. These signs typically present around 1 to 4 years of age.

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 since many other diseases present with similar clinical signs. 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

Occhiodoro T, Anson DS. Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels. Mamm Genome. 1996 Apr;7(4):271-4. doi: 10.1007/s003359900081. PMID: 8661697.

Skelly BJ, Sargan DR, Winchester BG, Smith MO, Herrtage ME, Giger U. Genomic screening for fucosidosis in English Springer Spaniels. Am J Vet Res. 1999 Jun;60(6):726-9. PMID: 10376901.

Disclaimer

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