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Background  Neuronal ceroid lipofuscinosis ( NCL ), a fatal neurodegenerative disease, has been diagnosed in young adult Australian Cattle Dogs.    Objective  Characterize the Australian Cattle Dog form of  NCL  and determine its molecular genetic cause.    Animals  Tissues from 4 Australian Cattle Dogs with  NCL ‐like signs and buccal swabs from both parents of a fifth affected breed member. Archived  DNA  samples from 712 individual dogs were genotyped.    Methods  Tissues were examined by fluorescence, electron, and immunohistochemical microscopy. A whole‐genome sequence was generated for 1 affected dog. A TaqMan allelic discrimination assay was used for genotyping.    Results  The accumulation of autofluorescent cytoplasmic storage material with characteristic ultrastructure in tissues from the 4 affected dogs supported a diagnosis of  NCL . The whole‐genome sequence contained a homozygous nonsense mutation:  CLN5:c.619C>T . All 4  DNA  samples from clinically affected dogs tested homozygous for the variant allele. Both parents of the fifth affected dog were heterozygotes. Archived  DNA  samples from 346 Australian Cattle Dogs, 188 Border Collies, and 177 dogs of other breeds were homozygous for the reference allele. One archived Australian Cattle Dog sample was from a heterozygote.    Conclusions and Clinical Importance  The homozygous   CLN 5  nonsense is almost certainly causal because the same mutation previously had been reported to cause a similar form of  NCL  in Border Collies. Identification of the molecular genetic cause of Australian Cattle Dog  NCL  will allow the use of  DNA  tests to confirm the diagnosis of  NCL  in this breed.

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies