Literature DB >> 23927914

Genetics of dementia.

Clement T Loy1, Peter R Schofield2, Anne M Turner3, John B J Kwok4.   

Abstract

25% of all people aged 55 years and older have a family history of dementia. For most, the family history is due to genetically complex disease, where many genetic variations of small effect interact to increase risk of dementia. The lifetime risk of dementia for these families is about 20%, compared with 10% in the general population. A small proportion of families have an autosomal dominant family history of early-onset dementia, which is often due to mendelian disease, caused by a mutation in one of the dementia genes. Each family member has a 50% chance of inheriting the mutation, which confers a lifetime dementia risk of over 95%. In this Review, we focus on the evidence for, and the approach to, genetic testing in Alzheimer's disease (APP, PSEN1, and PSEN2 genes), frontotemporal dementia (MAPT, GRN, C9ORF72, and other genes), and other familial dementias. We conclude by discussing the practical aspects of genetic counselling.
Copyright © 2014 Elsevier Ltd. All rights reserved.

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Year:  2013        PMID: 23927914     DOI: 10.1016/S0140-6736(13)60630-3

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  76 in total

1.  Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.

Authors:  Sigrun Roeber; Felix Müller-Sarnowski; Julia Kress; Dieter Edbauer; Tanja Kuhlmann; Frank Tüttelmann; Christoph Schindler; Pia Winter; Thomas Arzberger; Ulrich Müller; Adrian Danek; Hans A Kretzschmar
Journal:  J Neural Transm (Vienna)       Date:  2015-09-08       Impact factor: 3.575

Review 2.  Redox proteomics and amyloid β-peptide: insights into Alzheimer disease.

Authors:  D Allan Butterfield; Debra Boyd-Kimball
Journal:  J Neurochem       Date:  2018-11-27       Impact factor: 5.372

3.  Chronic traumatic encephalopathy: A paradigm in search of evidence?

Authors:  Rudy J Castellani
Journal:  Lab Invest       Date:  2015-04-13       Impact factor: 5.662

Review 4.  [Genetics of dementia].

Authors:  J Diehl-Schmid; K Oexle
Journal:  Nervenarzt       Date:  2015-07       Impact factor: 1.214

5.  The amyloid precursor protein (APP) intracellular domain regulates translation of p44, a short isoform of p53, through an IRES-dependent mechanism.

Authors:  Mi Li; Mariana Pehar; Yan Liu; Anita Bhattacharyya; Su-Chun Zhang; Kenneth J O'Riordan; Corinna Burger; Luciano D'Adamio; Luigi Puglielli
Journal:  Neurobiol Aging       Date:  2015-06-21       Impact factor: 4.673

6.  Different Hippocampus Functional Connectivity Patterns in Healthy Young Adults with Mutations of APP/Presenilin-1/2 and APOEε4.

Authors:  Li Juan Zheng; Yun Yan Su; Yun Fei Wang; U Joseph Schoepf; Akos Varga-Szemes; Jonathan Pannell; Xue Liang; Gang Zheng; Guang Ming Lu; Gui Fen Yang; Long Jiang Zhang
Journal:  Mol Neurobiol       Date:  2017-05-13       Impact factor: 5.590

Review 7.  Top 10 cardiovascular therapies and interventions for the next decade.

Authors:  Valentin Fuster
Journal:  Nat Rev Cardiol       Date:  2014-09-30       Impact factor: 32.419

8.  Case records of the Massachusetts General Hospital. Case 9-2015. A 31-year-old man with personality changes and progressive neurologic decline.

Authors:  Bruce L Miller; Bradford C Dickerson; Diane E Lucente; Mykol Larvie; Matthew P Frosch
Journal:  N Engl J Med       Date:  2015-03-19       Impact factor: 91.245

9.  Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia.

Authors:  Eoin P Flanagan; Matthew C Baker; Ralph B Perkerson; Joseph R Duffy; Edythe A Strand; Jennifer L Whitwell; Mary M Machulda; Rosa Rademakers; Keith A Josephs
Journal:  Dement Geriatr Cogn Disord       Date:  2015-02-28       Impact factor: 2.959

Review 10.  Recent Progress in the Pharmacotherapy of Alzheimer's Disease.

Authors:  Rita Khoury; Kush Patel; Jake Gold; Stephanie Hinds; George T Grossberg
Journal:  Drugs Aging       Date:  2017-11       Impact factor: 3.923

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