Glossary

Screening Scheme Description

DNA test - CL
Ceroid lipofuscinosis

Neuronal ceroidal lipofuscinosis (CL) is inherited as a single recessive mutation which affects the function of special structures, present within all cells, called lysosymes, which are responsible for degrading used cellular material. The mutation breaks the chain of degradation, causing toxic intermediates to accumulate affecting all cells, but particularly cells of the nervous system. Affected dogs appear normal at birth, but begin to exhibit symptoms early in life – around 1- 2 years of age. The age of onset and severity of the disease can vary greatly among individuals. The symptoms include progressive motor decline with seizures and loss of coordinated muscle movements, cognitive decline and abnormal behaviour. Visual impairment may occur.

Source of DNA Test: http://www.thekennelclub.org.uk/download/8288/dnatestsworldwide.pdf