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Neuronal Ceroid Lipofuscinosis 8

Description

Neuronal Ceroid Lipofuscinosis 8 (NCL8) is a lysosomal storage disease that has been identified in Australian Shepherds, German Shorthaired Pointers, Huntaways, and New Zealand Heading Dogs. 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.

Recommended Breeding

Diseases

Neuronal Ceroid Lipofuscinosis 8

$60.00

Associated Breed(s):

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Labels:

Currently Undefined

A label cannot be assigned at this time as this is outside the defined scope

Category:

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

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:

CLN8

Variant Detected:

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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