Neuronal ceroid lipofuscinosis (NCL) is a genetic storage disease of dogs characterized by progressive ataxia due to lysosomal lipid accumulation within neurones.
This genetic disease results in ceroid- or lipofuscin-like autofluorescent lipopigments forming within cerebellar neurons, retinal cells, and other visceral cells throughout the body. This disease is similar to human Batten disease.
Clinical symptoms are usually observed at 2 - 3 years of age (later in some breeds) and include progressive mental and motor deterioration, over-expressed and unintentional muscle movements and loss of coordination. Affected dogs will usually adopt a wide stance and occasional muscle twitching
A tentative diagnosis can be established by clinical signs in affected breeds, and histological appearance of neurones.
A definitive diagnosis requires DNA testing.
There is no known treatment for this disease and most affected dogs are euthanized within 12 months of clinical presentation.
- Jolly RD & Palmer DN (1995) The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects. Neuropathology and Applied Neurobiology 21(1):50–60