Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 35-year-old man died after 30 months following the onset of the disease. There was a history of changes in his mental condition, including disturbances of behavior as well as the evidence of progressing dementia. The patient revealed gait disturbances and finally became bed ridden. Bizarre behavior and changes of mood with concurrent growing irritability which predominated during the course of disease, may explain the initial diagnosis of schizophrenia. Then cerebellar and spastic movement disorders leading to paraparesis and sphincters disturbances developed. Clinical symptoms of adrenal failure were not found apart from episodes of arterial pressure fall. After two years a magnetic resonance imaging (MRI) revealed an extensive diffuse demyelinative process in white matter of cerebral and cerebellar hemispheres. Activity of lysosomal enzymes was normal. A general autopsy revealed atrophy of adrenal cortex and the presence of ballooned cells with striated cytoplasm in the reticular and fasciculate zones. Neuropathological examination revealed an extensive demyelination of white matter in cerebral and cerebellar hemispheres and of the long paths of the brain stem, corresponding to changes in MRI examination. Within demyelination areas damage of axons and diffuse cellular and fibrous gliosis were found as well as perivascular lymphocytic infiltrations with the presence of strong PAS (+) and Sudan (+) macrophages. Immunocytochemical reactions with HAM-56 and RCA1 in macrophages were positive. Electron microscopy examination revealed lamellar inclusions in cytoplasm of macrophages. Similar structures were present in the lysosomes of astrocytes. Morphological examination of adrenal glands as well as morphological and ultrastructural study of the brain allowed us to diagnose the cerebral form of adrenoleukodystrophy (ALD). Topography and character of the brain changes seems to be in keeping with a rare schizophrenic-like variant of ALD with progressive dementia. Abnormal plasma profile and increased VLCFA concentration in the patient's 13-year-old daughter confirm the ALD diagnosis.
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PMID:Adult schizophrenic-like variant of adrenoleukodystrophy. 981 21

Hereditary spastic paraparesis (HSP) is characterized by progressive spasticity and weakness of the legs with or without additional abnormalities. Reports of psychiatric disorders in patients with HSP are limited to mood disturbances rather than to psychosis. We had noted significant psychotic illness in several patients recruited to a survey of HSP in Ireland and therefore set about examining the frequency and nature of psychosis in our patients with HSP. Cases with HSP and psychotic illness were identified from a nationwide epidemiological and clinical study. Psychiatric case notes were reviewed and Operational Diagnostic Criteria Checklist (OPCRIT) applied. Six patients from four families with HSP had evidence of psychosis in addition to paraparesis. OPCRIT diagnoses were 'narrow schizophrenia' (n = 2), 'broad schizophrenia' (n = 2) and 'schizo-affective/manic disorder' (n = 2). Patients were from families with Kjellin's syndrome and SPG4-HSP but not other kindreds and psychosis was not evident in family members without HSP. We found a higher than expected rate of psychosis in the Irish HSP population. Two groups of HSP patients may have increased risk of developing psychosis: those with Kjellin's syndrome and those with SPG4-HSP.
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PMID:Hereditary spastic paraparesis and psychosis. 1687 99