Familial multiple system degeneration associated with iron deposition: determination of subcellular localization of elementary iron by energy-dispersive X-ray analysis.

We report an autopsy case characterized by iron deposition associated with multiple system degeneration. Although iron deposition was distributed as in Hallervorden Spatz syndrome, no spheroid was detectable. On the other hand, multiple system degeneration was observed mainly in the pallido-nigral and dentato-rubral systems which resembled pallido-nigro-luysian degeneration. However, the clinical course and manifestations, and the neuropathology of this case were not completely consistent with any previous report. Differential diagnosis and classification of the case are discussed, and the genetic diagnostic procedures are presented. We also investigated the subcellular localization of elemental iron in glial cells using energy-dispersive X-ray spectral analysis. A small amount of elementary iron was clearly demonstrated in some regions of membrane-bound electron-dense material presumably derived from lysosomes. Further accumulation of clinical and neuropathological data in such cases will provide some clues to discover the etiology and classification of multiple system degeneration that occurs in association with iron deposition.