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Neuronal Ceroid Lipofuscinosis 6

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Test Overview:

Neuronal Ceroid Lipofuscinosis 6 (NCL6) affects dogs and is a lysosomal storage disease. Dogs affected by this disease lack a specific enzyme necessary for normal metabolism. Due to this, there becomes an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs present with progressive neurologic disease at around 1.5 years of age. Symptoms can include loss of vision, behavioural change, anxiety, lack of muscle coordination and abnormal gait. Affected dogs are usually humanely euthanised by 2 years of age due to progression of the disease.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

CLN6

Variant Detected:

chr30:32247875 (canFam3): T>C

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CLN6 gene will reliably determine if a dog is a genetic carrier of neuronal ceroid lipofuscinosis 6.

Research Citation(s):

Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP. A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis. J Biomed Biotechnol. 2011; 2011:198042. [PubMed: 21234413]

Associated Breed(s):

Australian Shepherd, Miniature American Shepherd, Miniature Australian Shepherd, Mixed Breed, Toy Australian Shepherd,

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