Literature DB >> 14581682

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).

F Portet1, Y Dauvilliers, D Campion, G Raux, J J Hauw, O Lyon-Caen, W Camu, J Touchon.   

Abstract

The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).

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Year:  2003        PMID： 14581682     DOI： 10.1212/01.wnl.0000086811.39675.79

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  16 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

Review 2.  The clinical problem of symptomatic Alzheimer disease and mild cognitive impairment.

Authors:  Rawan Tarawneh; David M Holtzman
Journal:  Cold Spring Harb Perspect Med       Date:  2012-05       Impact factor: 6.915

3.  Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.

Authors:  Hirotaka Watanabe; Dan Xia; Takahisa Kanekiyo; Raymond J Kelleher; Jie Shen
Journal:  J Neurosci       Date:  2012-04-11       Impact factor: 6.167

Review 4.  Presenilin 1 Regulates Membrane Homeostatic Pathways that are Dysregulated in Alzheimer's Disease.

Authors:  Carol A Deaton; Gail V W Johnson
Journal:  J Alzheimers Dis       Date:  2020       Impact factor: 4.472

Review 5.  The paradox of syndromic diversity in Alzheimer disease.

Authors:  Jason D Warren; Phillip D Fletcher; Hannah L Golden
Journal:  Nat Rev Neurol       Date:  2012-07-17       Impact factor: 42.937

6.  Corticobasal Syndrome in a Family with Early-Onset Alzheimer's Disease Linked to a Presenilin-1 Gene Mutation.

Authors:  Eloisa Navarro; Clara De Andrés; Carmen Guerrero; Santiago Giménez-Roldán
Journal:  Mov Disord Clin Pract       Date:  2015-07-25

7.  De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Authors:  A Rovelet-Lecrux; C Charbonnier; D Wallon; G Nicolas; M N J Seaman; C Pottier; S Y Breusegem; P P Mathur; P Jenardhanan; K Le Guennec; A S Mukadam; O Quenez; S Coutant; S Rousseau; A-C Richard; A Boland; J-F Deleuze; T Frebourg; D Hannequin; D Campion
Journal:  Mol Psychiatry       Date:  2015-07-21       Impact factor: 15.992

Review 8.  Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Authors:  A J Larner; M Doran
Journal:  J Neurol       Date:  2005-11-04       Impact factor: 6.682

Review 9.  The genetics of Alzheimer's disease.

Authors:  Eva Bagyinszky; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2014-04-01       Impact factor: 4.458

10.  A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Authors:  Celia Kun-Rodrigues; Christos Ganos; Rita Guerreiro; Susanne A Schneider; Claudia Schulte; Suzanne Lesage; Lee Darwent; Peter Holmans; Andrew Singleton; Kailash Bhatia; Jose Bras
Journal:  Hum Mol Genet       Date:  2015-09-11       Impact factor: 6.150
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