Product Description

Neuronal Ceroid Lipofuscinosis Border Collie Type (NCL)

Neuronal ceroid lipofuscinosis Border Collie type (NCL) constitutes a group of recessively inherited lysosomal storage diseases that primarily affect neuronal cells. Typical clinical signs of these progressive neurodegenerative diseases include behavioural abnormality, sleep problems, mental retardation, dementia, seizure, motor abnormality such as ataxia, and/or in most cases visual problems leading to blindness.

Although symptoms of NCL in Border collies may be observable to owners as early as 15 months, the age of onset and severity can vary greatly between individuals. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia. The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations (displayed as fly biting), hyperactivity, and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities, such as house training, walking, and eating. Although complete blindness occurs in some cases. Due to the debilitating nature of the disease, Border collies suffering from NCL rarely survive beyond 28 months.

References:

Melville, S.A., Wilson, C.L., Chiang, C.S., Studdert, V.P., Lingaas, F., and Wilton, A.N. (2005). A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86, 287–294.

Mizukami, K., Chang, H.-S., Yabuki, A., Kawamichi, T., Kawahara, N., Hayashi, D., Hossain, M.A., Rahman, M.M., Uddin, M.M., and Yamato, O. (2011). Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan. J. Vet. Diagn. Invest. 23, 1131–1139.