A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

Research output: Contribution to journalArticle

871 Citations (Scopus)

Abstract

Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of leptomeningeal vessels. Although most cases of Alzheimer's disease are sporadic, kindreds with autosomal-dominant inheritance of the syndrome suggest that a single mutation may be important in pathogenesis. Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. This mutation correlates with the presence of Alzheimer's disease in all patients in this study, and may be the inherited factor causing both amyloid fibril formation and dementia.

Original languageEnglish (US)
Pages (from-to)97-99
Number of pages3
JournalScience
Volume254
Issue number5028
DOIs
StatePublished - Jan 1 1991

Fingerprint

Inborn Genetic Diseases
Amyloid beta-Protein Precursor
Alzheimer Disease
Mutation
Amyloid Plaques
Neurofibrillary Tangles
Amino Acid Substitution
DNA Sequence Analysis
Amyloid
Dementia
Autopsy

ASJC Scopus subject areas

  • General

Cite this

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. / Murrell, Jill; Farlow, Martin; Ghetti, Bernardino; Benson, Merrill D.

In: Science, Vol. 254, No. 5028, 01.01.1991, p. 97-99.

Research output: Contribution to journalArticle

@article{e2cf691ca2764a68ba3e9e21a9b9ec06,
title = "A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease",
abstract = "Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of leptomeningeal vessels. Although most cases of Alzheimer's disease are sporadic, kindreds with autosomal-dominant inheritance of the syndrome suggest that a single mutation may be important in pathogenesis. Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. This mutation correlates with the presence of Alzheimer's disease in all patients in this study, and may be the inherited factor causing both amyloid fibril formation and dementia.",
author = "Jill Murrell and Martin Farlow and Bernardino Ghetti and Benson, {Merrill D.}",
year = "1991",
month = "1",
day = "1",
doi = "10.1126/science.1925564",
language = "English (US)",
volume = "254",
pages = "97--99",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "5028",

}

TY - JOUR

T1 - A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

AU - Murrell, Jill

AU - Farlow, Martin

AU - Ghetti, Bernardino

AU - Benson, Merrill D.

PY - 1991/1/1

Y1 - 1991/1/1

N2 - Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of leptomeningeal vessels. Although most cases of Alzheimer's disease are sporadic, kindreds with autosomal-dominant inheritance of the syndrome suggest that a single mutation may be important in pathogenesis. Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. This mutation correlates with the presence of Alzheimer's disease in all patients in this study, and may be the inherited factor causing both amyloid fibril formation and dementia.

AB - Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of leptomeningeal vessels. Although most cases of Alzheimer's disease are sporadic, kindreds with autosomal-dominant inheritance of the syndrome suggest that a single mutation may be important in pathogenesis. Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. This mutation correlates with the presence of Alzheimer's disease in all patients in this study, and may be the inherited factor causing both amyloid fibril formation and dementia.

UR - http://www.scopus.com/inward/record.url?scp=0025950987&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025950987&partnerID=8YFLogxK

U2 - 10.1126/science.1925564

DO - 10.1126/science.1925564

M3 - Article

C2 - 1925564

AN - SCOPUS:0025950987

VL - 254

SP - 97

EP - 99

JO - Science

JF - Science

SN - 0036-8075

IS - 5028

ER -