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Neuronal Ceroid Lipofuscinosis 6 (Australian Shepherd Type)

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Description:

Neuronal Ceroid Lipofuscinosis 6 (NCL6) is a lysosomal storage disease affecting Australian Shepherds. Affected dogs lack a specific enzyme necessary for normal metabolism. As a result, there is 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 around 1.5 years of age with progressive neurologic disease. Symptoms include loss of vision, behavioral change, anxiety, lack of muscle coordination and abnormal gait. Affected dogs are often humanely euthanized by 2 years of age due to progression of the disease.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

CLN6

Variant Detected:

c.829T>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

Research Citation(s):

J Biomed Biotechnol. 2011;2011:198042

Associated Breed(s):

Australian Shepherd, Miniature American Shepherd, Mixed Breed, New Zealand Heading Dog,

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