Spectrum of amyloid β-protein immunoreactivity in hereditary Alzheimer disease with a guanine to thymine missence change at position 1924 of the APP gene

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Abstract

We studied neuropathologically 3 patients of a previously unreported kindred of presenile Alzheimer disease (AD), characterized by a G to T mutation at base pair 1924 (695 transcript) of the amyloid precursor protein gene. Classic features of presenile AD are observed. Neurofibrillary tangles with paired helical filaments as well as neuritic plaques are found in large number in neocortex and hippocampus. β-Protein deposits in meningeal and parenchymal vessels are present, but not severe. Prominent subpial ribbon-like deposits are detected with antibodies to a 28-residue synthetic peptide; however, only occasionally can they be seen in thioflavin S treated sections. Along with a mild involvement of vessels, as demonstrated by β-protein immunolabeling, parenchymal involvement is also seen in the cerebellar molecular layer. In the course of the study, we have not detected neuropathologic changes, which are mutation specific. Further investigations of familial Alzheimer disease with known genetic mutations will clarify whether correlations exist between specific mutations and neuropathologic phenotypes.

Original languageEnglish
Pages (from-to)133-139
Number of pages7
JournalBrain Research
Volume571
Issue number1
DOIs
StatePublished - Jan 31 1992

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Amyloidogenic Proteins
Inborn Genetic Diseases
Thymine
Guanine
Alzheimer Disease
Mutation
Genes
Neurofibrillary Tangles
Amyloid beta-Protein Precursor
Neocortex
Amyloid Plaques
Base Pairing
Hippocampus
Proteins
Phenotype
Peptides
Antibodies

Keywords

  • Amyloid plaque
  • Amyloid precursor protein gene
  • Immunohistochemistry
  • Neuritic plaque
  • Neurofibrillary tangle
  • Paired helical filament
  • β-Protein

ASJC Scopus subject areas

  • Developmental Biology
  • Molecular Biology
  • Clinical Neurology
  • Neuroscience(all)

Cite this

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title = "Spectrum of amyloid β-protein immunoreactivity in hereditary Alzheimer disease with a guanine to thymine missence change at position 1924 of the APP gene",
abstract = "We studied neuropathologically 3 patients of a previously unreported kindred of presenile Alzheimer disease (AD), characterized by a G to T mutation at base pair 1924 (695 transcript) of the amyloid precursor protein gene. Classic features of presenile AD are observed. Neurofibrillary tangles with paired helical filaments as well as neuritic plaques are found in large number in neocortex and hippocampus. β-Protein deposits in meningeal and parenchymal vessels are present, but not severe. Prominent subpial ribbon-like deposits are detected with antibodies to a 28-residue synthetic peptide; however, only occasionally can they be seen in thioflavin S treated sections. Along with a mild involvement of vessels, as demonstrated by β-protein immunolabeling, parenchymal involvement is also seen in the cerebellar molecular layer. In the course of the study, we have not detected neuropathologic changes, which are mutation specific. Further investigations of familial Alzheimer disease with known genetic mutations will clarify whether correlations exist between specific mutations and neuropathologic phenotypes.",
keywords = "Amyloid plaque, Amyloid precursor protein gene, Immunohistochemistry, Neuritic plaque, Neurofibrillary tangle, Paired helical filament, β-Protein",
author = "Bernardino Ghetti and Jill Murrell and Merrill Benson and Martin Farlow",
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AU - Ghetti, Bernardino

AU - Murrell, Jill

AU - Benson, Merrill

AU - Farlow, Martin

PY - 1992/1/31

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N2 - We studied neuropathologically 3 patients of a previously unreported kindred of presenile Alzheimer disease (AD), characterized by a G to T mutation at base pair 1924 (695 transcript) of the amyloid precursor protein gene. Classic features of presenile AD are observed. Neurofibrillary tangles with paired helical filaments as well as neuritic plaques are found in large number in neocortex and hippocampus. β-Protein deposits in meningeal and parenchymal vessels are present, but not severe. Prominent subpial ribbon-like deposits are detected with antibodies to a 28-residue synthetic peptide; however, only occasionally can they be seen in thioflavin S treated sections. Along with a mild involvement of vessels, as demonstrated by β-protein immunolabeling, parenchymal involvement is also seen in the cerebellar molecular layer. In the course of the study, we have not detected neuropathologic changes, which are mutation specific. Further investigations of familial Alzheimer disease with known genetic mutations will clarify whether correlations exist between specific mutations and neuropathologic phenotypes.

AB - We studied neuropathologically 3 patients of a previously unreported kindred of presenile Alzheimer disease (AD), characterized by a G to T mutation at base pair 1924 (695 transcript) of the amyloid precursor protein gene. Classic features of presenile AD are observed. Neurofibrillary tangles with paired helical filaments as well as neuritic plaques are found in large number in neocortex and hippocampus. β-Protein deposits in meningeal and parenchymal vessels are present, but not severe. Prominent subpial ribbon-like deposits are detected with antibodies to a 28-residue synthetic peptide; however, only occasionally can they be seen in thioflavin S treated sections. Along with a mild involvement of vessels, as demonstrated by β-protein immunolabeling, parenchymal involvement is also seen in the cerebellar molecular layer. In the course of the study, we have not detected neuropathologic changes, which are mutation specific. Further investigations of familial Alzheimer disease with known genetic mutations will clarify whether correlations exist between specific mutations and neuropathologic phenotypes.

KW - Amyloid plaque

KW - Amyloid precursor protein gene

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KW - Paired helical filament

KW - β-Protein

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