Literature DB >> 24691562

Large APP locus duplication in a sporadic case of cerebral haemorrhage.

Albert Lladó1, Oriol Grau-Rivera, Raquel Sánchez-Valle, Mircea Balasa, Víctor Obach, Sergio Amaro, M Jesús Rey, José L Molinuevo, Ellen Gelpi, Anna Antonell.   

Abstract

We report a 54-year-old man who was admitted to the hospital because of acute neurological symptoms due to a cerebral haemorrhage. Postmortem brain examination revealed a lobar haemorrhage and advanced AD neuropathologic changes associated with severe cerebral amyloid angiopathy. Genetic study evidenced the presence of a large APP locus duplication (APPdup) in the patient and a PSEN1 p.E318G polymorphism in him and his older asymptomatic sibling. The APPdup spanned 14.5 Mb and blocks of segmental duplications were detected in the breakpoints. We propose the replication-based mechanism of Fork Stalling Template Switching (FoSTeS) to explain this APPdup rearrangement.

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Year:  2014        PMID： 24691562     DOI： 10.1007/s10048-014-0395-z

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  8 in total

1.  National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach.

Authors:  Thomas J Montine; Creighton H Phelps; Thomas G Beach; Eileen H Bigio; Nigel J Cairns; Dennis W Dickson; Charles Duyckaerts; Matthew P Frosch; Eliezer Masliah; Suzanne S Mirra; Peter T Nelson; Julie A Schneider; Dietmar Rudolf Thal; John Q Trojanowski; Harry V Vinters; Bradley T Hyman
Journal:  Acta Neuropathol       Date:  2011-11-20       Impact factor: 17.088

2.  Molecular genetic analysis of the APP, PSEN1, and PSEN2 genes in Finnish patients with early-onset Alzheimer disease and frontotemporal lobar degeneration.

Authors:  Johanna Krüger; Virpi Moilanen; Kari Majamaa; Anne M Remes
Journal:  Alzheimer Dis Assoc Disord       Date:  2012 Jul-Sep       Impact factor: 2.703

3.  Breakpoint sequence analysis of an AβPP locus duplication associated with autosomal dominant Alzheimer's disease and severe cerebral amyloid angiopathy.

Authors:  Anna Antonell; Ellen Gelpi; Raquel Sánchez-Valle; Ramiro Martínez; José L Molinuevo; Albert Lladó
Journal:  J Alzheimers Dis       Date:  2012       Impact factor: 4.472

4.  APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

Authors:  Anne Rovelet-Lecrux; Didier Hannequin; Gregory Raux; Nathalie Le Meur; Annie Laquerrière; Anne Vital; Cécile Dumanchin; Sébastien Feuillette; Alexis Brice; Martine Vercelletto; Frédéric Dubas; Thierry Frebourg; Dominique Campion
Journal:  Nat Genet       Date:  2005-12-20       Impact factor: 38.330

5.  Phenotype associated with APP duplication in five families.

Authors:  Lucie Cabrejo; Lucie Guyant-Maréchal; Annie Laquerrière; Martine Vercelletto; François De la Fournière; Catherine Thomas-Antérion; Christophe Verny; Franck Letournel; Florence Pasquier; Anne Vital; Frédéric Checler; Thierry Frebourg; Dominique Campion; Didier Hannequin
Journal:  Brain       Date:  2006-09-07       Impact factor: 13.501

6.  A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.

Authors:  R Sánchez-Valle; A Lladó; M Ezquerra; M J Rey; L Rami; J L Molinuevo
Journal:  Eur J Neurol       Date:  2007-12       Impact factor: 6.089

7.  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

8.  Mechanisms for human genomic rearrangements.

Authors:  Wenli Gu; Feng Zhang; James R Lupski
Journal:  Pathogenetics       Date:  2008-11-03
  8 in total
  6 in total

1.  Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Authors:  Gaël Nicolas; David Wallon; Camille Charbonnier; Olivier Quenez; Stéphane Rousseau; Anne-Claire Richard; Anne Rovelet-Lecrux; Sophie Coutant; Kilan Le Guennec; Delphine Bacq; Jean-Guillaume Garnier; Robert Olaso; Anne Boland; Vincent Meyer; Jean-François Deleuze; Hans Markus Munter; Guillaume Bourque; Daniel Auld; Alexandre Montpetit; Mark Lathrop; Lucie Guyant-Maréchal; Olivier Martinaud; Jérémie Pariente; Adeline Rollin-Sillaire; Florence Pasquier; Isabelle Le Ber; Marie Sarazin; Bernard Croisile; Claire Boutoleau-Bretonnière; Catherine Thomas-Antérion; Claire Paquet; Mathilde Sauvée; Olivier Moreaud; Audrey Gabelle; François Sellal; Mathieu Ceccaldi; Ludivine Chamard; Frédéric Blanc; Thierry Frebourg; Dominique Campion; Didier Hannequin
Journal:  Eur J Hum Genet       Date:  2015-08-05       Impact factor: 4.246

2.  Text mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literature.

Authors:  Komandur Elayavilli Ravikumar; Kavishwar B Wagholikar; Dingcheng Li; Jean-Pierre Kocher; Hongfang Liu
Journal:  BMC Bioinformatics       Date:  2015-06-06       Impact factor: 3.169

Review 3.  Intracerebral haemorrhage in Down syndrome: protected or predisposed?

Authors:  Lewis Buss; Elizabeth Fisher; John Hardy; Dean Nizetic; Jurgen Groet; Laura Pulford; André Strydom
Journal:  F1000Res       Date:  2016-05-12

Review 4.  A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Authors:  Frances K Wiseman; Tamara Al-Janabi; John Hardy; Annette Karmiloff-Smith; Dean Nizetic; Victor L J Tybulewicz; Elizabeth M C Fisher; André Strydom
Journal:  Nat Rev Neurosci       Date:  2015-08-05       Impact factor: 34.870

5.  Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura.

Authors:  Gargi Banerjee; Matthew E Adams; Zane Jaunmuktane; G Alistair Lammie; Ben Turner; Mushtaq Wani; Inder M S Sawhney; Henry Houlden; Simon Mead; Sebastian Brandner; David J Werring
Journal:  Ann Neurol       Date:  2019-01-17       Impact factor: 10.422

6.  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
  6 in total

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