Early Onset Neuronal Ceroid Lipofuscinosis Type 1 in Border Collies (NCL1)
There are many forms of Neuronal Ceroid Lipofuscinosis (NCL1) that result in progressive degeneration of the central nervous system. Characteristic neurological signs of NCL include mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors, and aggressive behaviors.
NCL in Border Collies was first identified in Australia in the 1980s. Additional cases of NCL with the disease was also reported in the USA in the 1990s.
In 2005, a nonsense mutation (c.619C>T) in exon 4 in the canine CLN5 gene was reported to be linked to a specific form of Neuronal Ceroid Lipofuscinosis found in Border Collies. In 2016 NCL was diagnosed in young adult Australian Cattle Dogs. Further studies showed all affected individuals were identified as being homozygous for the nonsense mutation (c.619C>T) in exon 4, which was previously linked the NCL in Border Collies.
Acceptable Sample Types:
Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.
This Test Is Relevant For the Following Breeds:
- Australian Cattle Dogs
- Border Collie
Animal Genetics offers DNA testing for Neuronal Ceroid Lipofuscinosis Type 1 (NCL1). The genetic test verifies the presence of the Neuronal Ceroid Lipofuscinosis (NCL1) mutation and presents results as one of the following:
|NCL/NCL||Affected||The dog carries two copies of the mutant CLN5 gene and is homozygous for NCL. The dog is affected and will always pass a copy of the mutation to its offspring.|
|NCL/n||Carrier||Both the normal and mutant copies of the CLN5 gene detected. Dog is a carrier for the Neuronal Ceroid Lipofuscinosis and can pass on a copy of the defective gene to its offspring 50% of the time..|
|n/n||Clear||Dog tested negative for the mutant CLN5 gene and will not pass on the defective gene to its offspring.|