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Neuronal Ceroid Lipofuscinosis NCL (Saluki Type)

Neuronal Ceroid Lipofuscinosis NCL (Saluki Type)

$50

(ONLINE PRICE)

Test Overview:

Neuronal Ceroid Lipofuscinosis NCL (Saluki 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.

Category:

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

Gene:

CLN8

Variant Detected:

c.349dupT (p.Glu117*)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CLN8 gene will reliably determine if a dog is a genetic carrier of Neuronal Ceroid Lipofuscinosis NCL (Saluki Type).

Research Citation(s):

Lingaas, F., Guttersrud, O.A., Arnet, E., Espenes, A. : Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet 49:52-58, 2018. Pubmed reference: 29446145. DOI: 10.1111/age.12629.

Associated Breed(s):

Saluki,
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