Store
Already have an Orivet Account? Enter your information here
Neuroaxonal Dystrophy (Papillon Type)
$50.00 (RRP)
$50.00 (MEMBER PRICE)
Description:
Neuroaxonal dystrophy is an inherited neurological disease. Affected dogs typically present between 1-4 months of age with an abnormal gait, hindlimb weakness, and incoordination. The disease rapidly progresses to complete paralysis, blindness, and inability to eat. Affected dogs may also exhibit tremors, loss of hearing, and extension of limbs. Dogs are typically euthanized within a few months of showing clinical signs due to the severity of the disease.
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,
