RESUMO
A second member of the original family with the valine to isoleucine substitution at codon 717 of the amyloid precursor protein died after the clinical diagnosis of Alzheimer's disease had been made in life. Neuropathological examination of the brain revealed not only severe Alzheimer type pathology, with senile plaques and neurofibrillary tangles, but also Lewy bodies both in the cortex and brainstem. Lewy bodies also occurred in our first case, thus showing striking similarities in these two members of the same family. The possibility exists that the occurrence of Lewy bodies may not be coincidental, but could be genetically determined: the same genetic abnormality which determines the deposition of beta A4 protein, thus triggering of a chain of events leading to Alzheimer's disease, may result in, or predispose to Lewy body formation.
Assuntos
Precursor de Proteína beta-Amiloide/genética , Encéfalo/patologia , Corpos de Lewy/ultraestrutura , Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Citoesqueleto/ultraestrutura , Humanos , Mutação , Emaranhados Neurofibrilares/patologiaRESUMO
A medical, psychiatric and social assessment was conducted on 272 residents admitted consecutively to local authority residential care for the elderly in Nottingham in the year ending 31st January 1978. A high level of medical and psychiatric pathology was discovered, in spite of frequent general practitioner contact in the community and recent hospital admissions. Few of the staff in the old people's homes were sufficiently qualified to deal with the medical and psychiatric conditions of the residents only a third of whom had been examined by a general practitioner during the month after admission. The social service provision in the community showed an uneven pattern and did not appear to have a direct relationship with the residents' requirements, 12 per cent of whom could have remained in the community had there been adequate social assessment and support. Only just over half were appropriately placed, and a further third should have been in the care of the hospital services. Recommendations for change are directed towards the provision of routine medical, psychiatric and social assessment of all potential residents by geriatricians and psychogeriatricians in close collaboration with social services in special local authority assessment homes.
