A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

► An adult-onset neuronal ceroid lipofuscinosis (NCL) occurs in Tibetan terriers. ► Tibetan terrier NCL was mapped to the telomeric region of canine chromosome 2. ► A deletion and frame shift in ATP13A2 causes Tibetan terrier NCL ► Human ATP13A2 mutations are not common causes of Kufs disease (adult-onset NCL).