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Neuronal Ceroid Lipofuscinosis 10

Neuronal ceroid lipofuscinosis 10 (NCL10) is a hereditary lysosomal storage disease in dog breeds such as, American Bulldog andAmerican Bully, this is caused by a deficiency in the enzyme cathepsin D, leading to the accumulation of proteins in cells and resulting in progressive neurological symptoms such as lack of muscle coordination and difficulty balancing, typically appearing between 1 to 3 years of age and often leading to euthanasia within two years of diagnosis.

Affected Genes: CTSD

Inheritance: Autosomal Recessive

Variant(canFam6):
chr18:44623624: C>T

Breed: American Bulldog
American Bully

General Information: Neuronal ceroid lipofuscinosis 10 (NCL10) is a lysosomal storage disease in dogs caused by a deficiency in the enzyme cathepsin D, leading to an accumulation of proteins that impair brain and nervous system function. Symptoms, including lack of muscle coordination, abnormal gait, and balance issues, typically appear between 1 to 3 years of age. The disease progresses slowly but severely, often resulting in euthanasia within two years as affected dogs lose the ability to stand or walk.

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 of the CTSD gene can determine if a dog is a carrier of neuronal ceroid lipofuscinosis 10 (NCL10), a disease inherited in an autosomal recessive manner, requiring two copies of the mutated gene for development. Carrier dogs typically do not show symptoms but, if bred with another carrier, have a 25% chance of producing affected offspring and a 50% chance of producing carriers. Genetic testing is crucial for responsible breeding practices to avoid producing affected pups, and it is recommended to avoid breeding two carriers together. Non-carrier dogs do not have an increased risk of having pups with NCL10.

References:
Awano T, Katz ML, O'Brien DP, Taylor JF, Evans J, Khan S, Sohar I, Lobel P, Johnson GS. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab. 2006 87(4):341-348.

Evans J, Katz ML, Levesque D, Shelton GD, de Lahunta A, O'Brien D. A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med. 2005 19(1):44-51.