Neuroaxonal Dystrophies

Neuroaxonal dystrophies, rare neurometabolic diseases, are characterized by the presence of axonal spheroids. These are round or ellipsoid homogenous structures, 50 to 100 microns in diameter, dispersed freely in the neural parenchyma. They stain brightly red with eosin, are argentophilic, and immunoreact for a-synuclein, amyloid precursor protein (APP), ubiquitin, and neurofilament. Their pathogenesis is undetermined. A suggested hypothesis is disruption of the axonal transport.

Two forms of neuroaxonal dystrophies are infantile neuroaxonal dystrophy and neuroaxonal dystrophy with iron deposition in the brain. Both occur sporadically or are inherited in an autosomal recessive mode.

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