Literature DB >> 24413619

A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Simon Kang Seng Ting1, Tammie Benzinger2, Vladimir Kepe3, Anne Fagan4, Giovanni Coppola5, Verna Porter6, Silva Hecimovic7, Suma Chakraverty8, Ana Isabel Alvarez-Retuerto5, Alison Goate8, John M Ringman5.   

Abstract

Mutations in PSEN1 are the most common cause of autosomal dominant familial Alzheimer's disease (FAD). We describe an African-American woman with a family history consistent with FAD who began to experience cognitive decline at age 50. Her clinical presentation, MRI, FDG-PET, and PIB-PET scan findings were consistent with AD and she was found to have a novel I238M substitution in PSEN1. As this mutation caused increased production of Aβ42 in an in vitro assay, was not present in two population databases, and is conserved across species, it is likely to be pathogenic for FAD.

Entities:  

Keywords:  African; Alzheimer's disease; PIB-PET; PSEN1; amyloid-β$_{42}$; autosomal dominant; familial; gamma-secretase; in vitro; presenilin-1

Mesh：

Substances：

Year:  2014        PMID： 24413619      PMCID： PMC3972314          DOI： 10.3233/JAD-131844

Source DB:  PubMed          Journal:  J Alzheimers Dis        ISSN： 1387-2877            Impact factor:   4.472


  16 in total

1.  Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

Authors:  N Sodeyama; T Iwata; K Ishikawa; H Mizusawa; M Yamada; Y Itoh; E Otomo; M Matsushita; Y Komatsuzaki
Journal:  J Neurol Neurosurg Psychiatry       Date:  2001-10       Impact factor: 10.154

2.  The Thr354Ile substitution in PSEN1:: disease-causing mutation or polymorphism?

Authors:  Peiyee Lee; Luis Medina; John M Ringman
Journal:  Neurology       Date:  2006-06-27       Impact factor: 9.910

3.  Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.

Authors:  John M Ringman; Karen H Gylys; Luis D Medina; Michelle Fox; Vladimir Kepe; Deborah L Flores; Liana G Apostolova; Jorge R Barrio; Gary Small; Daniel H Silverman; Erin Siu; Stephen Cederbaum; Silva Hecimovic; Martina Malnar; Suma Chakraverty; Alison M Goate; Thomas D Bird; James B Leverenz
Journal:  Neurosci Lett       Date:  2010-11-19       Impact factor: 3.046

4.  Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein.

Authors:  Oksana Berezovska; Alberto Lleo; Lauren D Herl; Matthew P Frosch; Edward A Stern; Brian J Bacskai; Bradley T Hyman
Journal:  J Neurosci       Date:  2005-03-16       Impact factor: 6.167

5.  Clinical dementia rating: a reliable and valid diagnostic and staging measure for dementia of the Alzheimer type.

Authors:  J C Morris
Journal:  Int Psychogeriatr       Date:  1997       Impact factor: 3.878

6.  Mutations in APP have independent effects on Abeta and CTFgamma generation.

Authors:  Silva Hecimovic; Jun Wang; Georgia Dolios; Maribel Martinez; Rong Wang; Alison M Goate
Journal:  Neurobiol Dis       Date:  2004-11       Impact factor: 5.996

7.  Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia.

Authors:  Gregory A Rippon; Richard Crook; Matthew Baker; Elizabeth Halvorsen; Steven Chin; Michael Hutton; Henry Houlden; John Hardy; Timothy Lynch
Journal:  Arch Neurol       Date:  2003-06

8.  Female preclinical presenilin-1 mutation carriers unaware of their genetic status have higher levels of depression than their non-mutation carrying kin.

Authors:  J M Ringman; C Diaz-Olavarrieta; Y Rodriguez; M Chavez; F Paz; J Murrell; M Angel Macias; M Hill; C Kawas
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-03       Impact factor: 10.154

9.  Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network.

Authors:  John C Morris; Paul S Aisen; Randall J Bateman; Tammie L S Benzinger; Nigel J Cairns; Anne M Fagan; Bernardino Ghetti; Alison M Goate; David M Holtzman; William E Klunk; Eric McDade; Daniel S Marcus; Ralph N Martins; Colin L Masters; Richard Mayeux; Angela Oliver; Kimberly Quaid; John M Ringman; Martin N Rossor; Stephen Salloway; Peter R Schofield; Natalie J Selsor; Reisa A Sperling; Michael W Weiner; Chengjie Xiong; Krista L Moulder; Virginia D Buckles
Journal:  Clin Investig (Lond)       Date:  2012-10-01

10.  Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

Authors:  J C Janssen; J A Beck; T A Campbell; A Dickinson; N C Fox; R J Harvey; H Houlden; M N Rossor; J Collinge
Journal:  Neurology       Date:  2003-01-28       Impact factor: 9.910
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  7 in total

1.  Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Authors:  Aurelie N'Songo; Minerva M Carrasquillo; Xue Wang; Thuy Nguyen; Yan Asmann; Steven G Younkin; Mariet Allen; Ranjan Duara; Maria T Greig Custo; Neill Graff-Radford; Nilüfer Ertekin-Taner
Journal:  J Alzheimers Dis       Date:  2017       Impact factor: 4.472

2.  Early behavioural changes in familial Alzheimer's disease in the Dominantly Inherited Alzheimer Network.

Authors:  John M Ringman; Li-Jung Liang; Yan Zhou; Sitaram Vangala; Edmond Teng; Sarah Kremen; David Wharton; Alison Goate; Daniel S Marcus; Martin Farlow; Bernardino Ghetti; Eric McDade; Colin L Masters; Richard P Mayeux; Martin Rossor; Stephen Salloway; Peter R Schofield; Jeffrey L Cummings; Virginia Buckles; Randall Bateman; John C Morris
Journal:  Brain       Date:  2015-02-15       Impact factor: 13.501

3.  Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need.

Authors:  Ganesh M Babulal; Yakeel T Quiroz; Benedict C Albensi; Eider Arenaza-Urquijo; Arlene J Astell; Claudio Babiloni; Alex Bahar-Fuchs; Joanne Bell; Gene L Bowman; Adam M Brickman; Gaël Chételat; Carrie Ciro; Ann D Cohen; Peggye Dilworth-Anderson; Hiroko H Dodge; Simone Dreux; Steven Edland; Anna Esbensen; Lisbeth Evered; Michael Ewers; Keith N Fargo; Juan Fortea; Hector Gonzalez; Deborah R Gustafson; Elizabeth Head; James A Hendrix; Scott M Hofer; Leigh A Johnson; Roos Jutten; Kerry Kilborn; Krista L Lanctôt; Jennifer J Manly; Ralph N Martins; Michelle M Mielke; Martha Clare Morris; Melissa E Murray; Esther S Oh; Mario A Parra; Robert A Rissman; Catherine M Roe; Octavio A Santos; Nikolaos Scarmeas; Lon S Schneider; Nicole Schupf; Sietske Sikkes; Heather M Snyder; Hamid R Sohrabi; Yaakov Stern; Andre Strydom; Yi Tang; Graciela Muniz Terrera; Charlotte Teunissen; Debora Melo van Lent; Michael Weinborn; Linda Wesselman; Donna M Wilcock; Henrik Zetterberg; Sid E O'Bryant
Journal:  Alzheimers Dement       Date:  2018-12-13       Impact factor: 21.566

Review 4.  Diagnostic utility of 18F-Fluorodeoxyglucose positron emission tomography (FDG-PET) in asymptomatic subjects at increased risk for Alzheimer's disease.

Authors:  Alexander Drzezga; Daniele Altomare; Cristina Festari; Javier Arbizu; Stefania Orini; Karl Herholz; Peter Nestor; Federica Agosta; Femke Bouwman; Flavio Nobili; Zuzana Walker; Giovanni Battista Frisoni; Marina Boccardi
Journal:  Eur J Nucl Med Mol Imaging       Date:  2018-05-13       Impact factor: 9.236

5.  Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.

Authors:  Steffan K Soosman; Nelly Joseph-Mathurin; Meredith N Braskie; Yvette M Bordelon; David Wharton; Maria Casado; Giovanni Coppola; Holly McCallum; Marc Nuwer; Pedro Coutin-Churchman; Liana G Apostolova; Tammie Benzinger; John M Ringman
Journal:  Neurobiol Aging       Date:  2016-08-08       Impact factor: 4.673

6.  Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

Authors:  Tetsuo Cai; Kanan Morishima; Shizuka Takagi-Niidome; Aya Tominaga; Taisuke Tomita
Journal:  J Neurosci       Date:  2019-09-16       Impact factor: 6.167

Review 7.  Updated Review of the Evidence Supporting the Medical and Legal Use of NeuroQuant® and NeuroGage® in Patients With Traumatic Brain Injury.

Authors:  David E Ross; John Seabaugh; Jan M Seabaugh; Justis Barcelona; Daniel Seabaugh; Katherine Wright; Lee Norwind; Zachary King; Travis J Graham; Joseph Baker; Tanner Lewis
Journal:  Front Hum Neurosci       Date:  2022-04-08       Impact factor: 3.473
  7 in total

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