NCL2 (Neruronal Ceroid Lipofuscinosis)

Overview

Neruronal Ceroid Lipofuscinosis affects the function of special structures present within all cells called lysozymes, 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.

It is an autosomal recessive inherited condition.

Characteristics and Symptoms

Affected dogs appear normal at birth, but begin to exhibit clinical signs early in life around 1- 2 years of age. The age of onset and severity of the disease can vary greatly among individuals.

The clinical signs include progressive motor decline with seizures and loss of coordinated muscle movements, cognitive decline (decline in mental processes such as learning, memory and attention) and abnormal behaviour. Visual impairment may occur.

Prevention

DNA testing is available to identify clear, carrier and affected animals.

Possible Test Results :

• Clear
• Carrier
• Affected
• Hereditary Clear
• Hereditary Carrier
• Hereditary Affected