Ceroid lipofuscinosis

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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[1].

Breeds affected include the American Bulldog, Border Collie and Dachshund.

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.

A differential diagnosis would include polyneuropathy and gangliosidosis.

There is no known treatment for this disease and most affected dogs are euthanized within 12 months of clinical presentation.

References

  1. Jolly RD & Palmer DN (1995) The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects. Neuropathology and Applied Neurobiology 21(1):50–60