Neuronal Ceroid Lipofuscinosis 5 (Herding Dog Type)
Affected Genes: CLN5
Inheritance: Autosomal Recessive
Variant(canFam6):
chr22:30435735: C>T
Breed: Aussiedoodle
Australian Cattle Dog
Australian Koolie
Australian Shepherd
Australian Stumpy Tail Cattle Dog
Australian Working Kelpie
Border Collie
Bordoodle
Koolie
Miniature Australian Cattle Dog
General Information: Neuronal Ceroid Lipofuscinosis 5 (NCL5) is a genetic lysosomal storage disorder primarily affecting Border Collies, characterized by the accumulation of waste compounds in nervous system cells due to inadequate enzyme activity. Dogs with this condition usually begin to show symptoms between 15 and 20 months of age, including behavioral changes such as unresponsiveness to commands, loss of interest in play, irrational fears, and disorientation. As the disease progresses, more severe neurological symptoms emerge, such as ataxia (loss of coordination), frequent falling, seizures, wandering aimlessly, abnormal gait, lethargy, and vision loss. Affected dogs rarely survive beyond 32 months due to the rapid progression of the disease.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the CLN5 gene is crucial for identifying carriers and dogs affected by Neuronal Ceroid Lipofuscinosis 5 (Herding Dog Type). This disease is inherited in an autosomal recessive pattern, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Carrier dogs, which have one normal and one mutated gene, typically do not exhibit symptoms but can pass the mutation to their offspring. When planning breeding, it is vital to avoid mating two carriers, as this pairing has a 25% chance of producing affected puppies and a 50% chance of producing carrier puppies. Utilizing genetic testing for the CLN5 mutation allows breeders to make informed decisions, helping to eradicate this devastating condition from breeding lines and ensuring the production of healthy puppies. It is essential to maintain a breeding population free from the CLN5 mutation to prevent the occurrence of NCL5 and promote the health and longevity of Border Collies and other herding breeds.
References:
Melville SA, Wilson CL, Chiang CS, Studdert VP, Lingaas F, Wilton AN. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 2005 86(3):287-294.
Mizukami K, Chang HS, Yabuki A, Kawamichi T, Kawahara N, Hayashi D, Hossain MA, Rahman MM, Uddin MM, Yamato O. 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. 2011 23(6):1131-1139.
Mizukami K, Kawamichi T, Koie H, Tamura S, Matsunaga S, Imamoto S, Saito M, Hasegawa D, Matsuki N, Tamahara S, Sato S, Yabuki A, Chang HS, Yamato O. Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). Scientific World Journal 2012 383174.