Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis
Fig 2
Clinical and pathological findings of NAD in Papillon dogs.
a) Case 1. The dog showed persistent intention tremor and was severely emaciated due to eating difficulty. The appendicular muscles were atrophied. b) Photographic example of the formalin-fixed brain of Case 1. The cerebellum shows mild atrophy (yellow arrowheads). c) Sagittal section of the cerebellum of Case 2. The cerebellar cortex is mildly atrophied and the sulci are dilated (arrowheads). HE stain. d) Numerous small to medium-sized spheroids (yellow arrowheads) are observed in the cerebellar granular layer. Vacuolization is also observed at the border of the granular layer and white matter (black arrowheads). HE-stain. Bar = 50 μm. e) The olivary nucleus of Case 1. Small to medium-sized spheroids are scattered around the neurons. LFB-HE stain. Bar = 50 μm. f). The cuneate nucleus of Case 1. Medium-sized to large spheroids are frequently observed. The spheroids are eosinophilic and granular, and some contain clefts and vacuoles in the core. LFB-HE stain. Bar = 50 μm. g) to i) The cuneate nucleus of Case 1. Bar = 50 μm. NF (g) and synaptophysin (h) immunohistochemistry showed strong reactivity in the axonal spheroids. i) Ubiquitin immunohistochemistry showed numerous granularly positive spheroids. The surrounding small spheroids are also strongly positive. j) Transmission electron microscopy of a spheroid in the dorsal horn of the spinal cord. The spheroid contains dense membranous material and swollen mitochondria. Bar = 2 μm.