Neuronal Ceroid Lipofuscinosis 6
Affected Genes: CLN6
Inheritance: Autosomal Recessive
Mutation:
Variant(CamFam6):
chr30:32247875 (canFam3): T>C
Breed: Aussiedoodle
Australian Shepherd
Miniature American Shepherd
Miniature Australian Shepherd
Toy Australian Shepherd
Neuronal Ceroid Lipofuscinosis 6 (NCL6) is an inherited lysosomal storage disorder that affects dogs, leading to the buildup of waste compounds in the nervous system due to a deficiency in a specific enzyme. This results in a range of severe neurological symptoms that typically emerge around 1.5 years of age. Affected dogs may exhibit progressive loss of vision, changes in behavior, anxiety, lack of muscle coordination, and abnormal gait. As the disease advances, these symptoms become more pronounced, often leading to the need for humane euthanasia by 2 years of age due to the debilitating effects of the disorder.
References:
Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol. 2011; 2011:198042.