Three mutations that cause fifferent [i.e. different] forms of canine neuronal ceroid lipofuscinosis
Metadata[+] Show full item record
Neuronal ceroid-lipofuscinosis (NCL), also known as Battens disease, is really a group of inherited neurodegenerative diseases. A common feature of the ceroid lipofuscinoses is the deposition of autofluorescent cytoplasmic storage material in cells in the brain, retina, and many other tissues. The major symptoms are mental retardation, visual failure, lose of motor skills, seizures, and eventually premature death. In the European countries and the USA, the disease affects one in 12,500 to 100,000 people. Usually children appear to be healthy at birth and develop normally until the onset of the disease. Canine NCLs have been reported in a variety of breeds where they are important as veterinary diseases and as potential models for human NCLs. We have discovered that a missense mutation in the CLN8 gene causes NCL in English Setters, a missense mutation in the CTSD gene causes American Bulldog NCL, and frame shift mutation in the CLN2 gene causes Dachshund NCL.