Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:A comparative immunocytochemical study of human cerebellar cortex in X-chromosome-linked copper malabsorption (Menkes' kinky hair disease) and granule cell type cerebellar degeneration. 251 98