Neuropathological and biochemical studies were done of a 91/2-year-old girl with a sporadic form of infantile neuroaxonal dystrophy (INAD). The characteristic histopathological features were the following: (1) presence of eosinophilic spheroids in the central, peripheral, and autonomic nervous systems; (2) pallido-striato-nigral iron-containing pigmentary deposits; (3) cerebellar degeneration; and (4) associated neuronal, myelin, and glial changes. The biochemical analysis of the gray matter revealed a normal ganglioside level and composition, a reduction of glycoprotein-carbohydrate content with no alteration in the composition of the heteropolysaccharide chains of higher molecular weight, and a reduced level of glycosaminoglycans. The white matter chemical abnormalities consisted of a marked reduction in cerebrosides and minor abnormalities in the composition of gangliosides and dialyzable glycopeptides. Various views on the origin and possible pathomechanisms underlying the neuroaxonal dystrophy are entertained.
Haberland C, Brunngraber EG, Witting LA. Infantile Neuroaxonal DystrophyNeuropathological and Biochemical Study of a Case. Arch Neurol. 1972;26(5):391–402. doi:10.1001/archneur.1972.00490110025002
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