A COMPARATIVE IMMUNOCYTOCHEMICAL STUDY OF HUMAN CEREBELLAR CORTEX IN X–CHROMOSOME–LINKED COPPER MALABSORPTION (MENKES‘ KINKY HAIR DISEASE) AND GRANULE CELL TYPE CEREBELLAR DEGENERATION

A comparative immunocytochemical study on the cerebellar cortex with X–chromosome–linked copper malabsorption (X–cLCM) and granule cell type cerebellar degeneration (gc–CD) was carried out by using specific monoclonal antibodies to synaptophysin (SY) and glial fibrillary acidic protein (GFAP). In X–cLCM cases, marked depletion of SY–immunoreactivity (IR) and reduction in number of SY–positive glomeruli were seen in the molecular and granular layers, respectively. Abnormal Purkinje cells occasionally showed moderately strong SY–IR having a fine granular pattern. Proliferation of GFAP–positive cells was observed in the granular and Purkinje cell layers. In the gc–CD case, SY–positive materials were coarsely distributed in a less dense fashion in the molecular layer as compared to a normal control. Purkinje cell perikarya did not show SY–IR. In the gc–CD granular layer, SY–IR appeared to have a coarsely punctate pattern, whereas immunoreactive glomeruli were almost completely absent. A number of GFAP–positive Bergmann cells was observed in the Purkinje cell layer and their fibres were densely and irregularly distributed in the molecular layer, whereas the granular layer was devoid of GFAP–positive cells. We present an immunocytochemical study of the X–cLCM and gc–CD cerebellar cortices, discuss the possible pathogenic mechanisms occurring in these diseases and discuss the usefulness of the SY–immunostaining technique for visualization of axon terminal involvement in these pathological conditions.