Clinical, psychological and neuroradiological findings in a case of chronic schizophrenia with cognitive impairment and a mis-sense mutation at codon 713 of the Beta amyloid precursor protein gene

Citation

Lawrie SM, Goodwin GM, Dunan JR, O'Carroll R, Best JJK & St Clair DM (1993) Clinical, psychological and neuroradiological findings in a case of chronic schizophrenia with cognitive impairment and a mis-sense mutation at codon 713 of the Beta amyloid precursor protein gene. Schizophrenia Research, 10 (3), pp. 273-275. https://doi.org/10.1016/0920-9964%2893%2990062-N

Abstract
First paragraph: The Beta APP gene on chromosome 21 encodes for a protein which can be abnormally cleaved into products including the A4 peptide, which is commonly isolated from amyloid deposits in cerebral blood vessels and senile plaques in Alzheimer's disease. Mutations of codons 693, 717 and 692 have been found in hereditary cerebral haemorrhage with amyloidosis Dutch type (Levy et al., 1990) some families with early onset Alzheimer's disease (Chartier-Harlin et al., 1991), and in a family with presenile dementia and cerebral haemorrhage (Hendricks et al., 1992), respectively.

Journal
Schizophrenia Research: Volume 10, Issue 3

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Professor Ronan O'Carroll

Professor, Psychology