Disease overview

Neuronal Ceroid Lipofuscinosis, Type 2 (NCL-2) is a rapidly progressive lysosomal storage disease that causes central nervous system malfunction. NCL-2 affects Golden Retrievers.

Gene name

TPP1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs present at around 18-24 months of age with progressive signs around 6-7 months of age. These include blindness, tremors, behavioral changes, abnormal gait, and seizures. Behavioral changes can include anxiety, constant circling, aggression, compulsive behaviors, and loss of learned skills. This is a rapidly 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 is made post-mortem through necropsy of brain tissue.

Breeds at higher risk

, Golden Doodle

Citations

Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab. 2006 Nov;89(3):254-60. doi: 10.1016/j.ymgme.2006.02.016. Epub 2006 Apr 18. PMID: 16621647.

Disclaimer

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