Hereditary Defects Advice - Ceroid Lipofuscinosis (C.L.)

Neuronal Ceroid Lipofuscinosis (NCL or CL) is a rare inherited disease which affects the nerve cells of the body. It is also known as Storage Disease (when it occurs in humans it is known as Battens disease).

Affected animals appear normal until approximately 18 months, then the disease progresses rapidly once the initial signs appear and diseased animals have not been kept past 2 ½ years. The signs of the disease are:

Unreasonable apprehension or fear of familiar objects/surroundings, sight disturbance.
Abnormal gait, unsteady on feet, difficulty jumping or climbing, or placing feet.
Demented behaviour, manic hyperactivity, rage.

The gene which causes CL is recessive, so Affected dogs must have one copy of this gene from each parent, therefore both parents must either be Affected or Carriers in order to produce Affected puppies. A genetically Normal or Clear dog cannot produce Affected puppies, however as this is a lethal gene, the use of Carriers of this gene should be followed up by testing the whole litter in order identify potential Carrier puppies. Most of the lines that produce CL are well known, however it is wise to test your dog before breeding even if it is unrelated.

DNA testing for CL can be carried out by Animal Health Trust (www.aht.org.uk), Alan Wilton of the University of New South Wales (UNSW) (http://web.science.unsw.edu.au/~awilton/) or Optigen (www.optigen.com) in the United States. Optigen require a blood sample of 1-3ml (which must be drawn by a vet) and the cost is US$95. If getting CEA testing done the same sample may be used. UNSW will accept a cheek swab or blood drops on a FTA gene card (preferred) using the kits they provide and the cost is AUS$55. If you are also getting TNS done the same sample can be used and the cost is reduced.