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Raiden was NCL Tested at 6 months
of age. Raiden tested NCL Clear. He is clear of abnormalities and
clear of passing on any abnormalities. Please get your dog NCL
tested. Semper Fi Bullies will only breed to NCL tested dogs.
NCL Description for American Bulldogs
Age of onset of clinical signs: 0.9 to 3 years
Age of death or euthanasia: 3.5 to 5.5 years
Abnormalities often observed by the owner:
Mental changes: Physical symptoms may appear to worsen during times
of stress. Affected dogs do not indicate they are in any pain as
coordination decreases.
Changes in gait and posture: Initially, uncoordinated movement in
the rear is noted. As the disease progresses, affected dogs develop
a wide-based stance starting in rear, and eventually involving all
four legs. Affected dogs may exhibit muscle twitching, especially
when sleeping. The dogs remain well-muscled through the course of
the disease.
Visual abnormalities: None reported
Seizures/convulsions: None reported
Other changes: None reported
Abnormalities observed upon clinical examinations:
Clinical neurologic changes: Progressive ataxia and hypermetria is
present in all four limbs, but more pronounced in the pelvic limbs.
Conscious proprioception and hopping reactions are delayed in the
pelvic limbs but normal in the forelimbs on initial examination. In
advanced stages conscious proprioception reactions are absent in all
four limbs and dogs have difficulty rising from a recumbent position
without assistance. A wide-based stance of the pelvic limbs is
observed in younger affected dogs; this progresses to a wide-based
stance of all four limbs at later examinations. Spinal reflexes and
cranial nerve examinations are normal. The dogs remain well muscled.
Clinical ophthalmic changes: None reported
Visual abnormalities: None reported
Retinal changes: None reported
Electroretinography (ERG): None reported
Other clinical findings: None reported
Histopathology
Brain: The entire external surface of the brain has a light brown
hue but there is no evidence of cortical atrophy. Microscopically,
PAS-positive storage material is present in cerebral cortex,
brainstem, and cerebellum. The storage material in all cells
exhibits a golden-yellow autofluorescence. Axonal spheroids are
present in the brain and spinal cord. Ultrastructurally, storage
bodies consist of membrane-bound organelles with cross-sectional
diameters generally ranging from 0.5 to 3 microns. The inclusion
body profiles are sometimes round but more often irregular. The bulk
of the storage body contents are coarsely granular and most storage
bodies contain numbers of somewhat spherical aggregates of the
granular material. In addition, storage bodies from all 3 cell types
contain well-delineated spherical dark-staining inclusions that are
mostly smaller than 0.1 microns in diameter. In some cells in and
near the Purkinje cell layer of the cerebellum, the perinuclear
cytoplasm is filled with storage material that appears to be an
aggregation of smaller storage bodies that have fused.
Eyes: Microscopically, PAS-positive storage material is present in
ganglion cells of the retina. Under electron microscopic
examination, the storage bodies in retinal ganglion cells have an
additional ultrastructural feature of lighter-staining spherical
inclusions with the relatively uniform electron density typical of
lipid droplets.
Other organs and structures: None noted
Mode of inheritance: Autosomal recessive.
Gene containing mutation: The causative mutation has been identified
and a DNA test is now available. See details above.
References:
Evans J, Katz ML, Levesque D, Shelton D, deLahunta A and O’Brien DP:
A Variant Form of Neuronal Ceroid Lipofuscinosis in American
Bulldogs (2005) J. Vet. Internal Med., 19:44-51.
NCL link:
http://www.caninegeneticdiseases.net/CL_site/mainCL.htm
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