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Neurodegenerative Lysosomal Storage Disease Overview

Neurodegenerative Lysosomal Storage Disease
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: ATG4D

Variant Detected: Base Substitution G>A

Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.

Mode of Inheritance: Autosomal Recessive

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.

Research Citation(s): PLoS Genet 2015 11(4): e1005169.

Associated Breed(s): Burmese,