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Fucosidosis
Fucosidosis DNA Test Submission
Form (English Springer Spaniel)
Description:
Fucosidosis is a hereditary disease that occurs when a dog has a mutation in
a gene that codes for the enzyme alpha-fucosidase. This enzyme breaks down complex
molecules (polysaccharides) so that they can be recycled and/or removed from
a cell. The genetic mutation causes a deficiency of alpha-fucosidase in English
Springer Spaniels; consequently, complex molecules accumulate inside the cell.
This abnormal accumulation eventually interferes with the cell's ability to
function.
Fucosidosis is inherited as an autosomal recessive trait in show
and field English Springer Spaniels. A dog that receives a copy of the mutant
gene from both parents will show clinical signs. A dog with one copy of the
defective gene is a carrier; it will appear healthy but will pass the mutation
to its offspring. Researchers at the University of Pennsylvania have developed
a test to detect the deletion that occurs in the gene that codes for alpha-fucosidase.
This test can detect whether a dog is affected, a carrier, or is "clear".
Currently, the disease is most prevalent in the conformation lines
in the United Kingdom and Australia. However, cases have also been described
in field trial dogs. In the United States, clinical cases have been identified,
but the number of carriers is still unknown. Fucosidosis may be an emergent
disease in the United States, and breeders should consider screening their animals
for the presence of carriers. Any English Springer Spaniel that exhibits multifocal
neurological signs, especially a dog that descended from English families, should
be tested for fucosidosis.
Clinical Signs:
Most clinical signs of fucosidosis are due to abnormal storage in the cells
of the peripheral and central nervous system. Some organs tolerate the accumulation
of macromolecules relatively well, but the nervous system appears to be very
sensitive. Clinical signs include both behavioral changes and signs of motor
dysfunction that start at one to two years of age. Affected dogs exhibit bizarre
behavior patterns, may be aggressive or unusually depressed, and appear to forget
previously learned behaviors. An affected dog may resist restraint and appear
unsteady on its feet. The dog may also appear blind and deaf and may suffer
from gastrointestinal disorders such as dysphagia, regurgitation, and diarrhea.
Unlike Phosphofructokinase deficiency in English Springer Spaniels, this disease
progresses rapidly, and death or euthanasia usually occurs within a few weeks
from the onset of clinical signs between 1-4 years of age.
Affected Breeds:
English Springer Spaniel
Required Samples:
EDTA Blood, 1-2 mL or
2 buccal swabs
Price:
$75 each
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