Literature DB >> 11094121

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.

G Raux1, R Gantier, C Thomas-Anterion, J Boulliat, P Verpillat, D Hannequin, A Brice, T Frebourg, D Campion.   

Abstract

The authors report a presenilin 1 (PSEN1) mutation (L113P) in a family with six cases of dementia. The patients had personality changes and behavioral disorders, whereas spatial orientation and praxis were preserved late in the course of the illness. Neuroimaging features were consistent with the diagnosis of frontotemporal dementia. The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.

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Year:  2000        PMID： 11094121     DOI： 10.1212/wnl.55.10.1577

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


  39 in total

1.  Neuropsychological function in nondemented carriers of presenilin-1 mutations.

Authors:  J M Ringman; C Diaz-Olavarrieta; Y Rodriguez; M Chavez; L Fairbanks; F Paz; A Varpetian; H C Maldonado; M A Macias-Islas; J Murrell; B Ghetti; C Kawas
Journal:  Neurology       Date:  2005-08-23       Impact factor: 9.910

2.  Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia.

Authors:  John M Ringman; Yaneth Rodriguez; Claudia Diaz-Olavarrieta; Mireya Chavez; Michael Thompson; Lynn Fairbanks; Francisco Paz; Arousiak Varpetian; Hector Chaparro; Miguel Angel Macias-Islas; Jill Murrell; Bernardino Ghetti; Claudia Kawas
Journal:  Int Psychogeriatr       Date:  2007-04       Impact factor: 3.878

Review 3.  Genetics, transcriptomics, and proteomics of Alzheimer's disease.

Authors:  Andreas Papassotiropoulos; Michael Fountoulakis; Travis Dunckley; Dietrich A Stephan; Eric M Reiman
Journal:  J Clin Psychiatry       Date:  2006-04       Impact factor: 4.384

Review 4.  Correlating familial Alzheimer's disease gene mutations with clinical phenotype.

Authors:  Natalie S Ryan; Martin N Rossor
Journal:  Biomark Med       Date:  2010-02       Impact factor: 2.851

Review 5.  The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

Authors:  Jie Shen; Raymond J Kelleher
Journal:  Proc Natl Acad Sci U S A       Date:  2006-12-29       Impact factor: 11.205

6.  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

7.  Presenilin/gamma-Secretase and Inflammation.

Authors:  Carlos A Saura
Journal:  Front Aging Neurosci       Date:  2010-05-18       Impact factor: 5.750

8.  Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study.

Authors:  Gregory S Day; Erik S Musiek; Catherine M Roe; Joanne Norton; Alison M Goate; Carlos Cruchaga; Nigel J Cairns; John C Morris
Journal:  JAMA Neurol       Date:  2016-09-01       Impact factor: 18.302

9.  Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia.

Authors:  Maura Gallo; Carmine Tomaino; Gianfranco Puccio; Francesca Frangipane; Sabrina A M Curcio; Livia Bernardi; Silvana Geracitano; Maria Anfossi; Maria Mirabelli; Rosanna Colao; Franca Vasso; Nicoletta Smirne; Raffaele G Maletta; Amalia Cecilia Bruni
Journal:  Neurol Sci       Date:  2009-09-19       Impact factor: 3.307

10.  Intracellular calcium deficits in Drosophila cholinergic neurons expressing wild type or FAD-mutant presenilin.

Authors:  Kinga Michno; David Knight; Jorge M Campusano; Jorge M Campussano; Diana van de Hoef; Gabrielle L Boulianne
Journal:  PLoS One       Date:  2009-09-04       Impact factor: 3.240
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