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. NCL6 affects Australian Shepherds and presents with juvenile to adult onset signs.

Gene name

CLN6

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will develop neurological signs as early as 18 months of age. These may include blindness, behavioral changes, abnormal gait (ataxia), and seizures. This is a slowly progressive disease.

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

Citations

Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol. 2011;2011:198042. doi: 10.1155/2011/198042. Epub 2010 Dec 22. PMID: 21234413; PMCID: PMC3014706.

Disclaimer

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