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,