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Neuronal Ceroid Lipofuscinosis NCL (Golden Retriever Type)

Description

Neuronal Ceroid Lipofuscinosis NCL (Golden Retriever Type) affects dogs and is an inherited lysosomal storage disease. Dogs with this disease lack adequate activity of a specific enzyme necessary for normal cellular metabolism. Due to this, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, which can lead to a range of neurological symptoms. Affected dogs will usually present with progressive neurological disease beginning with restlessness and changes in behaviour at around 12 to 14 months of age. Around this age, loss of coordination, balance issues, or difficulty climbing stairs may also become apparent and may be more pronounced when excited. The disease progresses to include severe incoordination, wide-based stance, anxiety, tremors, agitation, persistent circling or pacing, loss of response to learned commands or behaviours, snapping at air (called “fly-biting”), blindness, aggression, and seizures. Affected dogs will generally die or are humanely euthanised by 2 to 3 years of age.

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Diseases

Neuronal Ceroid Lipofuscinosis NCL (Golden Retriever Type)

$ 50.00

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Associated Breed(s):

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Labels:

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

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:

CLN5 intracellular trafficking protein (CLN5) on Chromosome 22

Variant Detected:

Nucleotide Deletion c.934_935delAG p.E312Vfs*6 chr22:30574949-30574950 (canFam3): 2 bp deletion (del AG)

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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