Neuronal Ceroid Lipofuscinosis 10 (American Bulldog Type) Overview
Neuronal Ceroid Lipofuscinosis 10 (American Bulldog Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene: Cathepsin D (CTSD) on Chromosome 18
Variant Detected: Base Substitution c.597G>A p.Met199Ile
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: It is a form of group of neurodegenarative disorders, the neuronal ceroid lipofuscinoses (NCLs). They are known to affect humans, cats, sheep, goats, monkey, cattle etc. The neuronal ceroid lipofuscinoses (NCLs) are divided into genetically distinct forms, all causing accumulation of lipopigments in the body’s tissue. To date NCLs have been associated with 8 different genetic mutations. Another classification of NCLs includes age of onset, so they are divided into infantile (INCL), late-infantile, juvenile and adult onset forms. NCL 10 American Bulldog Type differs from other forms of NCLs, due to its impact on locomotion and no affect on the vision of the dog.
Research Citation(s): Awano T. et al. A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis (2006), Mol Genet Metab, 87(4);341–348.
Associated Breed(s): American Bulldog , American Bully , Mixed Breed, American Pit Bull Terrier,