Literature DB >> 10976645

Familial Alzheimer's disease: site of mutation influences clinical phenotype.

C F Lippa1, J M Swearer, K J Kane, D Nochlin, T D Bird, B Ghetti, L E Nee, P St George-Hyslop, D A Pollen, D A Drachman.   

Abstract

Alzheimer's disease (AD) is caused by multiple genetic and/or environmental etiologies. Because differences in the genetically determined pathogenesis may cause differences in the phenotype, we examined age at onset and age at death in 90 subjects with dominantly inherited AD due to different mutations (amyloid precursor protein, presenilin-1, and presenilin-2 genes). We found that among patients with dominantly inherited AD, genetic factors influence both age at onset and age at death.

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Year:  2000        PMID： 10976645

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  13 in total

Review 1.  Young onset dementia.

Authors:  E L Sampson; J D Warren; M N Rossor
Journal:  Postgrad Med J       Date:  2004-03       Impact factor: 2.401

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

3.  Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

Authors:  Livia Bernardi; Carmine Tomaino; Maria Anfossi; Maura Gallo; Silvana Geracitano; Gianfranco Puccio; Rosanna Colao; Francesca Frangipane; Maria Mirabelli; Nicoletta Smirne; Raffaele Giovanni Maletta; Amalia C Bruni
Journal:  J Neurol       Date:  2008-03-25       Impact factor: 4.849

Review 4.  Neurodegenerative diseases: pathology and the advantage of single-cell profiling.

Authors:  James E Galvin
Journal:  Neurochem Res       Date:  2004-06       Impact factor: 3.996

Review 5.  Cerebral amyloidosis: amyloid subunits, mutants and phenotypes.

Authors:  A Rostagno; J L Holton; T Lashley; T Revesz; Jorge Ghiso
Journal:  Cell Mol Life Sci       Date:  2009-11-07       Impact factor: 9.261

Review 6.  New genes and new insights from old genes: update on Alzheimer disease.

Authors:  John M Ringman; Giovanni Coppola
Journal:  Continuum (Minneap Minn)       Date:  2013-04

7.  Genetic testing for familial Alzheimer's must be debated.

Authors:  Josep M Garcia; José Luis R Martín
Journal:  BMJ       Date:  2002-09-07

8.  Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations.

Authors:  Grace J Lee; Po H Lu; Luis D Medina; Yaneth Rodriguez-Agudelo; Stephanie Melchor; Giovanni Coppola; Meredith N Braskie; Xue Hua; Liana G Apostolova; Alex D Leow; Paul M Thompson; John M Ringman
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-10-20       Impact factor: 10.154

Review 9.  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 10.  Dominantly Inherited Alzheimer Network: facilitating research and clinical trials.

Authors:  Krista L Moulder; B Joy Snider; Susan L Mills; Virginia D Buckles; Anna M Santacruz; Randall J Bateman; John C Morris
Journal:  Alzheimers Res Ther       Date:  2013-10-17       Impact factor: 6.982
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