In Fabry Disease (FD) patients, compared to healthy controls, a significant increase in magnetic susceptibility has been observed in the substantia nigra and in the striatum, associated to a significant volume loss limited to the single substantia nigra. These findings probably reflect neurodegenerative phenomena due to pathological iron deposition in these particular extrapyramidal relay stations. This evidence supports the current hypothesis of a permeative cerebral involvement in FD that goes further the pure cerebrovascular association, thus shedding new light on this condition.
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