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Neurodegenerative Lysosomal Storage Disease (Burmese Type)*
Test Overview:
Affected animals suffer from progressive cerebellar ataxia, sometimes accompanied by episodic nystagmus and behavioral changes. Histological examination revealed unique pathological changes, including profound neuronal cytoplasmic vacuolization in the nervous system, as well as spheroid formation and cytoplasmic aggregation of vacuoles in secretory epithelial tissues and mesenchymal cells.
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
ATG4D
Variant Detected:
Base Substitution G>A
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
PLoS Genet 2015 11(4): e1005169.