Journal ArticleDOI
Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease
Gerard D. Schellenberg,Thomas D. Bird,Ellen M. Wijsman,Deborah K. Moore,Michael Boehnke,Eileen Bryant,Eileen Bryant,Thomas H. Lampe,David Nochlin,S. M. Sumi,Samir S. Deeb,Konrad Beyreuther,George M. Martin +12 more
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TLDR
No evidence for linkage was found between familial Alzheimer's disease (FAD) and chromosome 21q21 markers (D 21S1/D21S72 and the amyloid beta gene) and data indicate that FAD is genetically heterogeneous.Abstract:
Alzheimer's disease is the most common form of dementia among the elderly population. Although the etiology is unknown, inheritance plays a role in the pathogenesis of the disease. Recent work indicates that an autosomal dominant gene for Alzheimer's disease is located on chromosome 21 at band q21. In the present study of a group of autopsy-documented kindreds, no evidence for linkage was found between familial Alzheimer's disease (FAD) and chromosome 21q21 markers (D21S1/D21S72 and the amyloid beta gene). Linkage to the D21S1/D21S72 locus was excluded at recombination fractions (theta) up to 0.17. Linkage to the amyloid gene was excluded at theta = 0.10. Apparent recombinants were noted in two families for the amyloid gene and in five families for the D21S1/D21S72 locus. These data indicate that FAD is genetically heterogeneous.read more
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Journal ArticleDOI
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
Alison Goate,Marie-Christine Chartier-Harlin,Michael Mullan,Jeremy P Brown,Fiona Crawford,Liana Fidani,L. Giuffra,Andrew Haynes,N.G. Irving,Louise James,R. Mant,Phillippa Newton,Karen Rooke,P Roques,Christopher Talbot,Margaret A. Pericak-Vance,Alien D. Roses,Robert Williamson,Martin N. Rossor,Michael John Owen,John Hardy +20 more
TL;DR: A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene as discussed by the authors, which suggests that some cases of AD could be caused by mutations in the APP gene.
Segregation of a missense mutation in the amyloid precursor protein gene with familial alzheimers-disease
A. Goate,M-C. Chartier-Harlin,Michael Mullan,J Brown,Fiona Crawford,Liana Fidani,L Giuffra,A. Haynes,N Irving,L James,R Mant,P. J. Newton,K Rooke,P Roques,C. Conover Talbot,Pericak-Vance Margareta A,A. Roses,Robert Williamson,Martin N. Rossor,M. J. Owen,John Hardy +20 more
TL;DR: It is demonstrated that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene that causes an amino-acid substitution close to the carboxy terminus of the β-amyloid peptide.
Journal ArticleDOI
Physical basis of cognitive alterations in Alzheimer's disease: synapse loss is the major correlate of cognitive impairment.
Robert D. Terry,Eliezer Masliah,David P. Salmon,Nelson Butters,Richard DeTeresa,Robert Hill,Lawrence A. Hansen,Robert Katzman +7 more
TL;DR: Both linear regressions and multivariate analyses correlating three global neuropsychological tests with a number of structural and neurochemical measurements performed on a prospective series of patients with Alzheimer's disease and 9 neuropathologically normal subjects reveal very powerful correlations with all three psychological assays.
Journal ArticleDOI
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
Ephrat Levy-Lahad,Wilma Wasco,Parvoneh Poorkaj,Donna M. Romano,Junko Oshima,Warren H. Pettingell,Chang En Yu,P. D. Jondro,Stephen D. Schmidt,Kai Wang,Annette C. Crowley,Ying-Hui Fu,Suzanne Y. Guénette,David J. Galas,Ellen Nemens,Ellen M. Wijsman,Thomas D. Bird,Gerard D. Schellenberg,Rudolph E. Tanzi +18 more
TL;DR: The presence of missense mutations in AD subjects in two highly similar genes strongly supports the hypothesis that mutations in both are pathogenic.
Journal ArticleDOI
The molecular pathology of Alzheimer's disease.
TL;DR: The salient features of the altered biochemistry of AD brain tissue and the possible role of these changes in the pathogenesis of this complex disease are reviewed here.
References
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Guy M. McKhann,David A. Drachman,Marshall F. Folstein,Robert Katzman,Donald L. Price,Emanuel M. Stadlan +5 more
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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
TL;DR: A technique for conveniently radiolabeling DNA restriction endonuclease fragments to high specific activity is described, and these "oligolabeled" DNA fragments serve as efficient probes in filter hybridization experiments.
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
TL;DR: In this article, a technique for conveniently radiolabeling DNA restriction endonuclease fragments to high specific activity is described, where DNA fragments are purified from agarose gels directly by ethanol precipitation and are then denatured and labeled with the large fragment of DNA polymerase I, using random oligonucleotides as primers.
Journal ArticleDOI
The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor
Jie Kang,H. G. Lemaire,A. Unterbeck,J. M. Salbaum,Colin L. Masters,K.-H. Grzeschik,Gerd Multhaup,Konrad Beyreuther,Benno Müller-Hill +8 more
TL;DR: An apparently full-length complementary DNA clone coding for the A4 polypeptide is isolated and sequenced and suggests that the cerebral amyloid deposited in Alzheimer's disease and aged Down's syndrome is caused by aberrant catabolism of a cell-surface receptor.
Journal ArticleDOI
Amyloid plaque core protein in Alzheimer disease and Down syndrome
Colin L. Masters,Gail Simms,Nicola A. Weinman,Gerd Multhaup,Brian L. McDonald,Konrad Beyreuther +5 more
TL;DR: The shared 4-kDa subunit indicates a common origin for the amyloids of the plaque core and of the congophilic angiopathy of Alzheimer disease and Down syndrome.
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