Biomedical subjects
Publications and source records attributed to C Forsell.
A case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome) demonstrating bilateral symmetric metaphyseal dysplasia is reported. This represents a new association with the syndrome.
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Three children with both childhood psychosis and neurofibromatosis are reported from a total population screening of psychotic disorder in childhood that had produced 51 cases born in the years 1962-1976 in the Göteborg region, Sweden. The findings suggest that the simultaneous occurrence of neurofibromatosis and childhood psychosis might be more than a coincidence. Underlying monoaminergic dysfunction is postulated as one possible reason for the finding.
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Mutations have been found in more than a hundred early-onset families with Alzheimer's disease (AD) in the genes for the amyloid precursor protein, presenilin 1 and presenilin 2. The object of our investigation was to identify if these mutations or novel ones were operating in a Swiss early-onset AD family (mean age of onset: 53.3 years) with 7 members available, all neuropathologically confirmed. No known or new mutations were detected. Thus, our data support the existence of a yet unknown mutation, or other genes, contributing to familial early-onset AD. CopyrightCopyright 1999S.KargerAG,Basel