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Neurodegenerative Lysosomal Storage Disease (Burmese Type)

US$ 67.00 RRP

US$ 50.00 (USER PRICE)

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.

Associated Breed(s):

Burmese, Mixed Breed / Unknown Breed (Feline),