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Neuronal Ceroid Lipofuscinosis 8 (English Setter Type) Overview

Neuronal Ceroid Lipofuscinosis 8 (English Setter Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: CLN8, transmembrane ER and ERGIC protein (CLN8) on Chromosome 37

Variant Detected: Base Substitution c.491C>T p.Leu164Pro

Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: A heritable neurodegenerative disease of English Setters has long been studied as a model of human neuronal ceroid-lipofuscinosis (NCL).

Research Citation(s): Katz ML, et al. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. (2005) Biochem Biophys Res Com, 327;541-547.

Associated Breed(s): Irish Terrier,  English Setter ,  Gordon Setter ,  Mixed Breed,  Irish Setter,