Neuroaxonal Dystrophy (Papillon Type) Overview
Neuroaxonal Dystrophy (Papillon Type)
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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: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the 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,