title: A comparative immunocytochemical study of human cerebellar cortex in X-chromosome-linked copper malabsorption (Menkes' kinky hair disease) and granule cell type cerebellar degeneration.
abstract: 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.
authors.affiliation: Divisions of Neuropathology, Montefiore Hospital and Medical Center, Albert Einstein College of Medicine, Bronx, New York 10467.
authors.forename: S
authors.initials: S
authors.lastname: Goto
authors.forename: A
authors.initials: A
authors.lastname: Hirano
authors.forename: R R
authors.initials: RR
authors.lastname: Rojas-Corona
mesh_terms: D001928:Brain Diseases, Metabolic / Q000378:metabolism*; D002525:Cerebellar Cortex / Q000378:metabolism* / Q000473:pathology; D002526:Cerebellar Diseases / Q000378:metabolism* / Q000473:pathology; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008565:Membrane Proteins / Q000378:metabolism*; D007706:Menkes Kinky Hair Syndrome / Q000378:metabolism* / Q000473:pathology; D008875:Middle Aged; D016708:Synaptophysin
chemical_list: D005904:Glial Fibrillary Acidic Protein; D008565:Membrane Proteins; D016708:Synaptophysin