Disease overview

Neurodegenerative vacuolar storage disease is a debilitating inherited neurological disorder that causes cerebellar dysfunction, due to the aggregation of vacuoles in the nervous system.

Gene name

ATG4D

Inheritance

Autosomal recessive

Signs and symptoms

Typical clinical presentation in affected dogs is progressive ataxia, which is lack of muscle control and coordination of movements. There may be other neurological signs exhibited, such as abnormal eye movements and behavior changes.

How is it diagnosed

Clinical signs are suggestive of a cerebellar dysfunction, though may not be specific to this disease. Genetic testing can determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. PMID: 25875846; PMCID: PMC4398399.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.