title: Beta A4 protein deposition in familial Alzheimer's disease with the mutation in codon 717 of the beta A4 amyloid precursor protein gene and sporadic Alzheimer's disease.
abstract: Beta A4 protein immunoreactivity in the neocortex and hippocampus of familial Alzheimer's disease (AD) including the case with the beta A4 amyloid precursor protein (APP) gene mutation in codon 717 (APP717 Val-->Ile) and sporadic cases of AD is described. A semi-automatic image analysis system was used to quantify beta A4 protein load in the isocortex of the frontal and temporal lobes and in subfields of the hippocampus. Immunoreactivity was measured in ten cases of sporadic AD and in five cases of familial AD including one in which the APP717 Val-->Ile mutation was present. Beta A4 protein load, as measured by square microns of immunoreactivity per square millimetre of cortex, was similar in the frontal and temporal isocortex in both sporadic and familial AD. There was greater variation in beta A4 protein load in subfields of the hippocampus but these differences were not significant between sporadic and familial cases. In the case with the APP717 Val-->Ile mutation. Beta A4 protein load in isocortex was greater than the mean for familial and sporadic cases of AD but less than the most severe cases of beta A4 protein deposition which were found in sporadic AD. In addition, the case with the APP717 Val-->Ile mutation has the same cytoskeletal pathology as sporadic cases of AD. The mechanism by which normal and mutant APP is processed to produce amyloidogenic fragments remains to be determined.
authors: Department of Neuropathology, Institute of Psychiatry, London, UK.
authors: N J
authors: NJ
authors: Cairns
authors: A
authors: A
authors: Chadwick
authors: P L
authors: PL
authors: Lantos
authors: R
authors: R
authors: Levy
authors: M N
authors: MN
authors: Rossor
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D016229:Amyloid beta-Peptides / Q000235:genetics / Q000378:metabolism*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics / Q000378:metabolism*; D002540:Cerebral Cortex / Q000473:pathology; D003062:Codon; D006624:Hippocampus / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D008875:Middle Aged; D009154:Mutation; D016612:Paraffin Embedding
chemical_list: D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor; D003062:Codon