This genetic disease results from a ATP13A2 frameshift mutation that 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 (5 - 7 years in the Tibetan Terrier) and often begin with blindness in twilight and disorientation. As the disease progress, more obvious symtoms occur, such as behavioral changes (agggression, anxiousness, disinterest in owner), progressive mental and motor deterioration, blindness, ataxia, dementia, partial seizures, uncoordinated 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, magnetic resonance image, fundoscopy and histological appearance of neurones.
Definitive diagnosis requires DNA testing of buccal swabs.
There is no known treatment for this disease and most affected dogs are euthanized within 12 months of clinical presentation.
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