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Neuroaxonal Dystrophy (Papillon Type)

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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,

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