Literature DB >> 18043715

Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease.

Elin S Blom1, Jayashree Viswanathan, Lena Kilander, Seppo Helisalmi, Hilkka Soininen, Lars Lannfelt, Martin Ingelsson, Anna Glaser, Mikko Hiltunen.   

Abstract

Familial early-onset Alzheimer's disease with cerebral amyloid angiopathy (EOAD/CAA) was recently associated with duplications of the gene for the amyloid-beta precursor protein (APP). In this study, we have screened for duplications of APP in patients with EOAD from Sweden and Finland. Seventy-five individuals from families with EOAD and 66 individuals with EOAD without known familial inheritance were screened by quantitative PCR. On the basis of the initial results, a portion of the samples was also investigated with quantitative multiplex PCR. No duplications of APP were identified, whereby we conclude that this is not a common cause of EOAD in the Swedish and Finnish populations, at least not in our collection of families and cases.

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Year:  2007        PMID: 18043715     DOI: 10.1038/sj.ejhg.5201966

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  10 in total

1.  High-density lipoprotein facilitates in vivo delivery of α-tocopherol-conjugated short-interfering RNA to the brain.

Authors:  Yoshitaka Uno; Wenying Piao; Kanjiro Miyata; Kazutaka Nishina; Hidehiro Mizusawa; Takanori Yokota
Journal:  Hum Gene Ther       Date:  2011-03-21       Impact factor: 5.695

Review 2.  Current status on Alzheimer disease molecular genetics: from past, to present, to future.

Authors:  Karolien Bettens; Kristel Sleegers; Christine Van Broeckhoven
Journal:  Hum Mol Genet       Date:  2010-04-13       Impact factor: 6.150

Review 3.  The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.

Authors:  Rita J Guerreiro; Deborah R Gustafson; John Hardy
Journal:  Neurobiol Aging       Date:  2010-07-01       Impact factor: 4.673

4.  Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.

Authors:  Daniel McNaughton; William Knight; Rita Guerreiro; Natalie Ryan; Jessica Lowe; Mark Poulter; David J Nicholl; John Hardy; Tamas Revesz; James Lowe; Martin Rossor; John Collinge; Simon Mead
Journal:  Neurobiol Aging       Date:  2010-12-28       Impact factor: 4.673

5.  Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.

Authors:  Håkan Thonberg; Marie Fallström; Jenny Björkström; Jacqueline Schoumans; Inger Nennesmo; Caroline Graff
Journal:  BMC Res Notes       Date:  2011-11-01

Review 6.  Inconsistencies and controversies surrounding the amyloid hypothesis of Alzheimer's disease.

Authors:  Gary P Morris; Ian A Clark; Bryce Vissel
Journal:  Acta Neuropathol Commun       Date:  2014-09-18       Impact factor: 7.801

7.  Genetics of dementia in a Finnish cohort.

Authors:  Petra Pasanen; Liisa Myllykangas; Minna Pöyhönen; Anna Kiviharju; Maija Siitonen; John Hardy; Jose Bras; Anders Paetau; Pentti J Tienari; Rita Guerreiro; Auli Verkkoniemi-Ahola
Journal:  Eur J Hum Genet       Date:  2018-02-23       Impact factor: 4.246

Review 8.  Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Authors:  Miguel Calero; Alberto Gómez-Ramos; Olga Calero; Eduardo Soriano; Jesús Avila; Miguel Medina
Journal:  Front Cell Neurosci       Date:  2015-04-09       Impact factor: 5.505

Review 9.  Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Authors:  Andrea Pilotto; Alessandro Padovani; Barbara Borroni
Journal:  Biomed Res Int       Date:  2013-11-27       Impact factor: 3.411

10.  Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.

Authors:  David M A Mann; Yvonne S Davidson; Andrew C Robinson; Nancy Allen; Tadafumi Hashimoto; Anna Richardson; Matthew Jones; Julie S Snowden; Neil Pendleton; Marie-Claude Potier; Annie Laquerrière; Vee Prasher; Takeshi Iwatsubo; Andre Strydom
Journal:  Acta Neuropathol       Date:  2018-05-16       Impact factor: 17.088

  10 in total

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