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Neurodegenerative Vacuolar Storage Disease (Lagotto RomagnoloType)
Test Overview:
Affected dogs suffer from progressive cerebellar ataxia, sometimes accompanied by episodic nystagmus and behavioral changes.
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
Autophagy related 4D cysteine peptidase (ATG4D) on Chromosome 20
Variant Detected:
Base Substitution c.1288G>A p.Ala430Thr
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Kyöstilä, K et al. A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease (2015) PloS Genet 11(4);e1005169.
Associated Breed(s):
Lagotto Romagnolo, Mixed Breed,
