Neuroaxonal Dystrophy (Papillon Type)

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Phospholipase A2 group VI (PLA2G6) on Chromosome 10

Variant Detected:

Base Substitution c.1579G>A p.A526T

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):

Tsuboi M, et al. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. (2017) Plos One 12(1); e0169002.

Associated Breed(s):

Mixed Breed, Papillon,