Neuronal ceroid lipofuscinosis, CTSD-related

Disease overview

The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases. Lysosomes digest and remove waste from the cells, so when they malfunction, large molecules build up in cells and cause neurological issues. NCL10 is a progressive disease that affects American Bulldogs, and presents with juvenile to adult onset signs.

Gene name

CTSD

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs begin to display neurological symptoms between one and 3 years of age. Clinical signs include vision complications or blindness, behavioral changes, and seizures. This disease has a slower progression over two to four years.

How is it diagnosed

A veterinarian will conduct a thorough exam, as well as review health history and any clinical signs. However, clinical signs are typically non-specific, requiring further testing, such as advanced imaging and/or spinal taps. Genetic testing can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs. A definitive diagnosis of neuronal ceroid lipofuscinosis, however, is made post-mortem through necropsy of brain tissue.

Breeds at higher risk

American bulldogs

Citations

Awano T, Katz ML, O'Brien DP, Taylor JF, Evans J, Khan S, Sohar I, Lobel P, Johnson GS. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab. 2006 Apr;87(4):341-8. doi: 10.1016/j.ymgme.2005.11.005. Epub 2006 Jan 4. PMID: 16386934.