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Neuronal Ceroid Lipofuscinosis 10 (American Bulldog Type)

Neuronal Ceroid Lipofuscinosis 10 (American Bulldog Type)

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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.

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:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

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 , American Pit Bull Terrier, Mixed Breed,

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