Neuronal Ceroid Lipofuscinosis NCL (Saluki Type)

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

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,