Literature DB >> 8863158

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

D Campion1, A Brice, D Hannequin, F Charbonnier, B Dubois, C Martin, A Michon, C Penet, M Bellis, A Calenda, M Martinez, Y Agid, F Clerget-Darpoux, T Frebourg.   

Abstract

We sequenced exons 16 and 17 of the APP (amyloid precursor protein) gene in 18 unrelated French Alzheimer's disease (AD) patients. These patients had an onset before the age of 60 and belonged to families with autosomal dominant transmission of the disease. We detected the APP 717 Val-->Ile mutation in three out of 18 (16.6%) families. In these three families, all affected subjects had the APOE 3/3 genotype, but their ages of onset ranged from 38 to 60 years, indicating that factors other than the APOE genotype influence age of onset. Analysis of two polymorphic loci adjacent to the APP gene showed that at least two independent mutational events had occurred within these pedigrees, in spite of their origin in the same region of France.

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8863158      PMCID： PMC1050700          DOI： 10.1136/jmg.33.8.661

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  33 in total

1.  Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.

Authors:  S Naruse; S Igarashi; H Kobayashi; K Aoki; T Inuzuka; K Kaneko; T Shimizu; K Iihara; T Kojima; T Miyatake
Journal:  Lancet       Date:  1991-04-20       Impact factor: 79.321

2.  Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.

Authors:  R E Tanzi; G Vaula; D M Romano; M Mortilla; T L Huang; R G Tupler; W Wasco; B T Hyman; J L Haines; B J Jenkins
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.

Authors:  M C Chartier-Harlin; F Crawford; H Houlden; A Warren; D Hughes; L Fidani; A Goate; M Rossor; P Roques; J Hardy
Journal:  Nature       Date:  1991-10-31       Impact factor: 49.962

4.  Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

Authors:  E Levy; M D Carman; I J Fernandez-Madrid; M D Power; I Lieberburg; S G van Duinen; G T Bots; W Luyendijk; B Frangione
Journal:  Science       Date:  1990-06-01       Impact factor: 47.728

5.  Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group.

Authors:  M Martinez; D Campion; M C Babron; D Hannequin; Y Agid; M Bellis; A Brice; J Mallet; A Michon; C Thomas-Anterion; F Clerget-Darpoux
Journal:  Am J Med Genet       Date:  1996-02-16

6.  Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.

Authors:  A Goate; M C Chartier-Harlin; M Mullan; J Brown; F Crawford; L Fidani; L Giuffra; A Haynes; N Irving; L James
Journal:  Nature       Date:  1991-02-21       Impact factor: 49.962

7.  Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.

Authors:  H Karlinsky; G Vaula; J L Haines; J Ridgley; C Bergeron; M Mortilla; R G Tupler; M E Percy; Y Robitaille; N E Noldy
Journal:  Neurology       Date:  1992-08       Impact factor: 9.910

8.  Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.

Authors:  G McKhann; D Drachman; M Folstein; R Katzman; D Price; E M Stadlan
Journal:  Neurology       Date:  1984-07       Impact factor: 9.910

9.  The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.

Authors:  K Yoshioka; T Miki; T Katsuya; T Ogihara; Y Sakaki
Journal:  Biochem Biophys Res Commun       Date:  1991-08-15       Impact factor: 3.575

10.  Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

Authors:  D Campion; J M Flaman; A Brice; D Hannequin; B Dubois; C Martin; V Moreau; F Charbonnier; O Didierjean; S Tardieu
Journal:  Hum Mol Genet       Date:  1995-12       Impact factor: 6.150
View more
  5 in total

1.  Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.

Authors:  K Ancolio; C Dumanchin; H Barelli; J M Warter; A Brice; D Campion; T Frébourg; F Checler
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-30       Impact factor: 11.205

2.  Novel mutations and repeated findings of mutations in familial Alzheimer disease.

Authors:  Ulrich Finckh; Christian Kuschel; Maria Anagnostouli; Efstratios Patsouris; George V Pantes; Stylianos Gatzonis; Elisabeth Kapaki; Panagiota Davaki; Katrin Lamszus; Dimitrios Stavrou; Andreas Gal
Journal:  Neurogenetics       Date:  2005-03-18       Impact factor: 2.660

3.  Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

Authors:  D Campion; C Dumanchin; D Hannequin; B Dubois; S Belliard; M Puel; C Thomas-Anterion; A Michon; C Martin; F Charbonnier; G Raux; A Camuzat; C Penet; V Mesnage; M Martinez; F Clerget-Darpoux; A Brice; T Frebourg
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

4.  Molecular Mechanisms in Alzheimer's Disease.

Authors:  Ana Stavljenic-Rukavina
Journal:  EJIFCC       Date:  2004-08-31

Review 5.  The Genetics of Alzheimer's Disease in the Chinese Population.

Authors:  Chen-Ling Gan; Tao Zhang; Tae Ho Lee
Journal:  Int J Mol Sci       Date:  2020-03-30       Impact factor: 5.923
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.