Neurodegenerative Vacuolar Storage Disease (Lagotto RomagnoloType) Overview
Neurodegenerative Vacuolar Storage Disease (Lagotto RomagnoloType)
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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: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: Affected dogs suffer from progressive cerebellar ataxia, sometimes accompanied by episodic nystagmus and behavioral changes.
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,