Neuronal ceroid lipofuscinosis, TPP1-related

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 Retriever, 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.