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Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease

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      Morphological and morphometric studies were performed on the spinal cords and roots in 6 typical cases of Werdnig-Hoffmann disease (WHD) and 3 age-matched controls to gain further insight into the pathogenesis of this disease.
      (1) We observed islands of glial bundles in the anterior spinal roots in all cases and in the posterior roots in one case. (2) Loss of myelin was seen in the posterior columns and spinocerebellar tracts at the thoracic and lumbar segments in two cases, and in the anterior and lateral corticospinal tracts at the thoracic and lumbar segments in one case. (3) A few figures of neuronophagia were observed in the Onufrowicz nuclei in two cases, whereas the figures were hardly seen in other nuclei. (4) a) In the lateral nuclei of C5, L3 and S2 segments of the spinal cords in WHD, the reduction in the number of motor cells was almost symmetrical and diffuse throughout the spinal cord, and it varied from one-eleventh to one-third of controls. b) In the anteromedial nuclei of C5 and L3 segments, there was mild to moderate reduction in the number of motor cells (50–75% and 36–72% of controls, respectively). c) There was no distinct difference in the number and the mean diameter of the cells in the Onufrowicz nucleus between WHD and controls, but some of the cells of the nucleus in WHD showed central chromatolysis (3.1–4.9%) to the same extent as those of other nuclei. d) In controls, the mean minimum diameter of the cells of the lateral, anteromedial and Onufrowicz nuclei was comparatively large, medium and small, respectively.
      These results suggested a tendency to initial degeneration of the clusters of the large motor cells and later degeneration in those of the small or medium cells in WHD. However, the cause remains unknown.

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