Neuronal Ceroid Lipofuscionsis (8)



Neuronal Ceroid Lipofuscinosis 8 (Setter Type)

Turnaround: 3-5 days

US: $45.00 | UK: £40.00

Breeds: English Setter, Mixed Breed, Unspecified

Description

Neuronal ceroid lipofuscinosis 8 (NCL-8) is a neurological disease that affects certain dog breeds between 12 to 18 months of age.  A mutation in the dogs DNA reduces the ability for cell in the nervous system to breakdown waist. Overtime, these proteins accumulate in the cells affecting the brain and nervous systems normal function. In most affected dogs common symptoms include a lack of muscle coordination, tremors, loss of vision, abnormal gait and difficulty in balancing and jumping. Eventually, most dogs lose their ability to stand or walk on their own.  As these symptoms continue develop and worsen the majority of dogs are euthanized within 2 years.

Possible Results

Genotype Description
NCL/NCL Affected: Dog has two copies of the NCL-8 mutation and will be affected. The gene will be passed on to every offspring.
n/NCL Carrier: Dog has one copy of the NCL-8 mutation. Dog will not be affected by NCL-8 but may pass the mutation to offspring.
n/n Clear: Dog is negative for mutation associated with NCL-8.

Reference

Katz ML, Khan S, Awano T, Shahid SA, Siakotos AN, Johnson GS. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun. 2005 Feb 11; 327(2):541-7. [PubMed: 15629147]

Koppang N. English setter model and juvenile ceroid-lipofuscinosis I n man. Am J Med Genet. 1992 Feb 15;42(4):599-604. [PubMed: 1609842]