Loading...

home
Order Tests for Dogs
DNA Tests
Neuronal Ceroid Lipofuscinosis 10 (American Bulldog Type)

Description

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.

Recommended Breeding

Diseases

Neuronal Ceroid Lipofuscinosis 10 (American Bulldog Type)

$ 50.00

1

Associated Breed(s):

Click here to view Associated Breeds

Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

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

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.

Gene:

Cathepsin D (CTSD) on Chromosome 18

Variant Detected:

Base Substitution c.597G>A p.Met199Ile

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference