Neuronal Ceroid Lipofuscinosis NCL2 | Animal Genetics

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Neuronal Ceroid Lipofuscinosis in a American Bulldog

Description:

There are many forms of Neuronal Ceroid Lipofuscinosis (NCL) resulting in progressive degeneration of the central nervous system. NCL is characterized by accumulations of autofluorescent lipopigments within cells of the nervous system. Neurological signs of NCL include mental dullness, Ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behaviors.

 

In American Bulldogs, a mutation in the cathepsin D gene (CTSD) causes a form of NCL. The disease in the American Bulldogs is different from classical late-infantile onset NCL. In American Buldogs clinical signs developed between 1 and 3 years of age and slowly progressive over several years.

Video of NCL - Neuronal Ceroid Lipofuscinosis - affected American Bulldog


Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.

Test Is Relevant to the Following Breeds:

American Bulldogs

Results:

Animal Genetics offers DNA testing for Neuronal Ceroid Lipofuscinosis. The genetic test verifies the presence of the Neuronal Ceroid Lipofuscinosis mutation and presents results as one of the following:

NCL3/NCL3 Affected The dog carries two copies of the mutant CTSD gene and is homozygous for Neuronal Ceroid Lipofuscinosis. The dog is affected by NCL and will always pass a copy of the mutation to its offspring.
NCL3/n Carrier Both the normal and mutant copies of the CTSD gene detected. Dog is a carrier for the Neuronal Ceroid Lipofuscinosis mutation and can pass on a copy of the defective gene to its offspring.
n/n Clear Dog tested negative for the Hyperuricosuria mutation and will not pass on the defective gene to its offspring.