Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 59-year-old patient progressively developed dementia, hallucinations and facial dyskinesia. Brain T and T2-weighted MRI images showed low signal intensity on basal ganglia specially striatum, posterior thalamic and dentate nuclei. He had no evidence of ceruloplasmin and a high level of ferritin in the serum. Liver biopsy confirmed accumulation of iron in the cytoplasm of many hepatocytes. Similar clinical and biological signs were also observed in two brothers. All the three siblings were homozygous for a hereditary ceruloplasmin deficiency. This new clinico-pathological entity, first described in 1987, is different from Wilson's disease, Hallervorden-Spatz's disease and idiopathic hemochromatosis and linked to a mutation of the ceruloplasmin gene located on chromosome 3.
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PMID:[Cerebral hemosiderosis related to hereditary ceruloplasmin deficiency. Clinical familial case study]. 977 37

A 33-year-old male patient began to develop schizophrenia-like symptoms and slowly progressive cerebellar ataxia. He was 170 cm tall and he had mild frontal baldness. Psychiatrically he was aconative, only willing to do nothing all day long after admission. He had neither hallucinations nor delusions, and his mental acuity was normal. Neurological examination revealed positive cerebellar signs including clumsiness in F-N-T and K-H-T and dysdiadochokinesis. He could neither stand up nor walk because of ataxia. The brain MRI showed severe cerebellar atrophy with normal basal ganglia. His EEG and the value of NCV were within normal range, whereas electroretinography showed a notable abnormality, pointing to the extremely small b-wave, resulting in a negative shape of the ERG. Although he was eating sufficiently, the level of serum iron and ferritin remained constantly low. The serum copper level was within normal range, whereas the serum ceruloplasmin level was mildly decreased. A hepatic biopsy indicated no accumulation of copper or iron. This case suggests the importance of the investigation of the serum iron and ceruloplasmin levels in patients who have cerebellar degeneration with psychosis.
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PMID:[A case of cerebellar degeneration with schizophrenia-like psychosis, severe iron deficiency, hypoceruloplasminemia and abnormal electroretinography: a new syndrome?]. 1188 36