A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease.

ABSTRACT: Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic studies to characterize a novel canine neurodegenerative disease present in the Lagotto Romagnolo dog breed. Affected dogs 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. Genetic analyses uncovered a missense change, c.1288G>A; p.A430T, in the autophagy-related ATG4D gene on canine chromosome 20 with a highly signifi

SUBMITTER: Kyostila K 

PROVIDER: S-EPMC4398399 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature