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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.
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Associated Breed(s):
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Category:
Genetic Diseases
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.
Gene:
CLN6
Variant Detected:
c.829T>C
Mode of Inheritance:
Recomended Screening:
Research Citation(s):