Neuronal Ceroid Lipofuscionsis (4A)



Neuronal Ceroid Lipofuscionsis Type 4A

Turnaround: 3-5 days

US: $45.00 | UK: £40.00

Breeds: American Bully, American Staffordshire Terrier, Bull Terrier, Exotic Bully, Mixed Breed, Pit Bull Terrier, Staffordshire Bull Terrier, Unspecified

Description

Neuronal ceroid lipofuscinosis 4A (NCL-4A) is a neurological disease that affects certain dog breeds between 3 to 5 years of age. Point Mutation in the dogs DNA reduces the activity of arylsulfatase G, an Enzyme necessary to break down certain proteins in the cells. Overtime, these proteins accumulate in cells affecting the brain and nervous systems normal function. In most affected dogs common symptoms include a lack of muscle coordination, tremors, abnormal eye movement, abnormal gait and difficulty in balancing and jumping. As symptoms continue develop and worsen the majority of dogs are euthanized between 2-5 years after symptoms first appear.  Mild forms of NCL-4A have been reported causing minimal symptoms of the disease.

Possible Results

Genotype Description
NCL/NCL Affected: Dog has two copies of the NCL-4A mutation and will be affected. The dog will pass the mutation on to every offspring.
n/NCL Carrier: Dog has one copy of the NCL-4A mutation. Dog will not be affected by NCL-4A but may pass the mutation to offspring.
n/n Clear: Dog is negative for mutation associated with NCL-4A.

Reference

Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, Delattre D, André C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A. 2010 Aug 17; 107(33):14775-80. [PubMed: 20679209]