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- W1973976631 abstract "Two siblings with Gaucher's disease developed a chronic, slowly progressive neurologic disorder in early adult life. Stimulus-sensitive myoclonus, generalized seizures, supranuclear gaze palsies, and cerebellar ataxia were the main clinical features. Autopsy disclosed perivascular Gaucher cells in the brain, and nerve cell loss and neuronophagia in the brainstem, cerebellum, and spinal cord. From these observations and the literature, there seem to be three clinically distinct neurologic syndromes in Gaucher's disease, depending on the age at which symptoms begin, but the neuropathologic changes are essentially the same in all of them. A modified classification of Gaucher's disease, based on these observations, is proposed." @default.
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- W1973976631 date "1983-08-01" @default.
- W1973976631 modified "2023-10-14" @default.
- W1973976631 title "Non-infantile neuronopathic Gaucher's disease: A clinicopathologic study" @default.
- W1973976631 doi "https://doi.org/10.1212/wnl.33.8.994" @default.
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