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. NCL12 affects Australian Cattle Dogs, and presents with adult onset signs.

Gene name

ATP13A2

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will show neurologic signs around 6 years of age. Clinical signs include vision complications or blindness, behavioral changes, and seizures. This disease is slowly progressive.

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

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Citations

Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML. A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis. 2011 Jun;42(3):468-74. doi: 10.1016/j.nbd.2011.02.009. Epub 2011 Feb 26. PMID: 21362476.

Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Mol Genet Metab. 2019 May;127(1):95-106. doi: 10.1016/j.ymgme.2018.11.015. Epub 2019 Mar 27. PMID: 30956123; PMCID: PMC6548654.

Disclaimer

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