Literature DB >> 25567624

Genetics and underlying pathology of dementia.

Beata Ferencz1, Lotte Gerritsen.   

Abstract

As the population steadily ages, dementia, in all its forms, remains a great societal challenge. Yet, our knowledge of their etiology remains rather limited. To this end, genetic studies can give us insight into the underlying mechanisms that lead to the development of dementia, potentially facilitating treatments in the future. In this review we cover the most recent genetic risk factors associated with the onset of the four most common dementia types today, including Alzheimer's disease (AD), Vascular Dementia (VaD), Frontotemporal Lobar Degeneration (FTLD) and Lewy Body Dementia (LBD). Moreover, we discuss the overlap in major underlying pathologies of dementia derived from their genetic associations. While all four dementia types appear to involve genes associated with tau-pathology and neuroinflammation only LBD, AD and VaD appear to involve amyloid genes while LBD and FTLD share alpha synuclein genes. Together these findings suggest that some of the dementias may exist along a spectrum and demonstrates the necessity to conduct large-scale studies pinpointing the etiology of the dementias and potential gene and environment interactions that may influence their development.

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Year:  2015        PMID: 25567624     DOI: 10.1007/s11065-014-9276-3

Source DB:  PubMed          Journal:  Neuropsychol Rev        ISSN: 1040-7308            Impact factor:   7.444


  118 in total

1.  Familial aggregation of dementia with Lewy bodies.

Authors:  Angela Nervi; Christiane Reitz; Ming-Xin Tang; Vincent Santana; Angel Piriz; Dolly Reyes; Rafael Lantigua; Martin Medrano; Ivonne Z Jiménez-Velázquez; Joseph H Lee; Richard Mayeux
Journal:  Arch Neurol       Date:  2011-01

Review 2.  APOE and cholesterol homeostasis in Alzheimer's disease.

Authors:  Valérie Leduc; Stéphanie Jasmin-Bélanger; Judes Poirier
Journal:  Trends Mol Med       Date:  2010-10       Impact factor: 11.951

Review 3.  Regulation of clusterin/apolipoprotein J, a functional homologue to the small heat shock proteins, by oxidative stress in ageing and age-related diseases.

Authors:  Ioannis P Trougakos; Efstathios S Gonos
Journal:  Free Radic Res       Date:  2006-12

Review 4.  Dyslipidemia and the risk of Alzheimer's disease.

Authors:  Christiane Reitz
Journal:  Curr Atheroscler Rep       Date:  2013-03       Impact factor: 5.113

5.  Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

Authors:  Lesley Jones; Peter A Holmans; Marian L Hamshere; Denise Harold; Valentina Moskvina; Dobril Ivanov; Andrew Pocklington; Richard Abraham; Paul Hollingworth; Rebecca Sims; Amy Gerrish; Jaspreet Singh Pahwa; Nicola Jones; Alexandra Stretton; Angharad R Morgan; Simon Lovestone; John Powell; Petroula Proitsi; Michelle K Lupton; Carol Brayne; David C Rubinsztein; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Kevin Morgan; Kristelle S Brown; Peter A Passmore; David Craig; Bernadette McGuinness; Stephen Todd; Clive Holmes; David Mann; A David Smith; Seth Love; Patrick G Kehoe; Simon Mead; Nick Fox; Martin Rossor; John Collinge; Wolfgang Maier; Frank Jessen; Britta Schürmann; Reinhard Heun; Heike Kölsch; Hendrik van den Bussche; Isabella Heuser; Oliver Peters; Johannes Kornhuber; Jens Wiltfang; Martin Dichgans; Lutz Frölich; Harald Hampel; Michael Hüll; Dan Rujescu; Alison M Goate; John S K Kauwe; Carlos Cruchaga; Petra Nowotny; John C Morris; Kevin Mayo; Gill Livingston; Nicholas J Bass; Hugh Gurling; Andrew McQuillin; Rhian Gwilliam; Panos Deloukas; Ammar Al-Chalabi; Christopher E Shaw; Andrew B Singleton; Rita Guerreiro; Thomas W Mühleisen; Markus M Nöthen; Susanne Moebus; Karl-Heinz Jöckel; Norman Klopp; H-Erich Wichmann; Eckhard Rüther; Minerva M Carrasquillo; V Shane Pankratz; Steven G Younkin; John Hardy; Michael C O'Donovan; Michael J Owen; Julie Williams
Journal:  PLoS One       Date:  2010-11-15       Impact factor: 3.240

Review 6.  Hereditary cerebral small vessel diseases: a review.

Authors:  Antonio Federico; Ilaria Di Donato; Silvia Bianchi; Chiara Di Palma; Ilaria Taglia; Maria Teresa Dotti
Journal:  J Neurol Sci       Date:  2012-08-04       Impact factor: 3.181

7.  ACE, MTHFR, factor V Leiden, and APOE polymorphisms in patients with vascular and Alzheimer's dementia.

Authors:  J Chapman; N Wang; T A Treves; A D Korczyn; N M Bornstein
Journal:  Stroke       Date:  1998-07       Impact factor: 7.914

8.  Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Authors:  Adam C Naj; Gyungah Jun; Gary W Beecham; Li-San Wang; Badri Narayan Vardarajan; Jacqueline Buros; Paul J Gallins; Joseph D Buxbaum; Gail P Jarvik; Paul K Crane; Eric B Larson; Thomas D Bird; Bradley F Boeve; Neill R Graff-Radford; Philip L De Jager; Denis Evans; Julie A Schneider; Minerva M Carrasquillo; Nilufer Ertekin-Taner; Steven G Younkin; Carlos Cruchaga; John S K Kauwe; Petra Nowotny; Patricia Kramer; John Hardy; Matthew J Huentelman; Amanda J Myers; Michael M Barmada; F Yesim Demirci; Clinton T Baldwin; Robert C Green; Ekaterina Rogaeva; Peter St George-Hyslop; Steven E Arnold; Robert Barber; Thomas Beach; Eileen H Bigio; James D Bowen; Adam Boxer; James R Burke; Nigel J Cairns; Chris S Carlson; Regina M Carney; Steven L Carroll; Helena C Chui; David G Clark; Jason Corneveaux; Carl W Cotman; Jeffrey L Cummings; Charles DeCarli; Steven T DeKosky; Ramon Diaz-Arrastia; Malcolm Dick; Dennis W Dickson; William G Ellis; Kelley M Faber; Kenneth B Fallon; Martin R Farlow; Steven Ferris; Matthew P Frosch; Douglas R Galasko; Mary Ganguli; Marla Gearing; Daniel H Geschwind; Bernardino Ghetti; John R Gilbert; Sid Gilman; Bruno Giordani; Jonathan D Glass; John H Growdon; Ronald L Hamilton; Lindy E Harrell; Elizabeth Head; Lawrence S Honig; Christine M Hulette; Bradley T Hyman; Gregory A Jicha; Lee-Way Jin; Nancy Johnson; Jason Karlawish; Anna Karydas; Jeffrey A Kaye; Ronald Kim; Edward H Koo; Neil W Kowall; James J Lah; Allan I Levey; Andrew P Lieberman; Oscar L Lopez; Wendy J Mack; Daniel C Marson; Frank Martiniuk; Deborah C Mash; Eliezer Masliah; Wayne C McCormick; Susan M McCurry; Andrew N McDavid; Ann C McKee; Marsel Mesulam; Bruce L Miller; Carol A Miller; Joshua W Miller; Joseph E Parisi; Daniel P Perl; Elaine Peskind; Ronald C Petersen; Wayne W Poon; Joseph F Quinn; Ruchita A Rajbhandary; Murray Raskind; Barry Reisberg; John M Ringman; Erik D Roberson; Roger N Rosenberg; Mary Sano; Lon S Schneider; William Seeley; Michael L Shelanski; Michael A Slifer; Charles D Smith; Joshua A Sonnen; Salvatore Spina; Robert A Stern; Rudolph E Tanzi; John Q Trojanowski; Juan C Troncoso; Vivianna M Van Deerlin; Harry V Vinters; Jean Paul Vonsattel; Sandra Weintraub; Kathleen A Welsh-Bohmer; Jennifer Williamson; Randall L Woltjer; Laura B Cantwell; Beth A Dombroski; Duane Beekly; Kathryn L Lunetta; Eden R Martin; M Ilyas Kamboh; Andrew J Saykin; Eric M Reiman; David A Bennett; John C Morris; Thomas J Montine; Alison M Goate; Deborah Blacker; Debby W Tsuang; Hakon Hakonarson; Walter A Kukull; Tatiana M Foroud; Jonathan L Haines; Richard Mayeux; Margaret A Pericak-Vance; Lindsay A Farrer; Gerard D Schellenberg
Journal:  Nat Genet       Date:  2011-04-03       Impact factor: 38.330

9.  Promising Genetic Biomarkers of Preclinical Alzheimer's Disease: The Influence of APOE and TOMM40 on Brain Integrity.

Authors:  Beata Ferencz; Sari Karlsson; Grégoria Kalpouzos
Journal:  Int J Alzheimers Dis       Date:  2012-04-09

10.  Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

Authors:  Gary W Beecham; Kara Hamilton; Adam C Naj; Eden R Martin; Matt Huentelman; Amanda J Myers; Jason J Corneveaux; John Hardy; Jean-Paul Vonsattel; Steven G Younkin; David A Bennett; Philip L De Jager; Eric B Larson; Paul K Crane; M Ilyas Kamboh; Julia K Kofler; Deborah C Mash; Linda Duque; John R Gilbert; Harry Gwirtsman; Joseph D Buxbaum; Patricia Kramer; Dennis W Dickson; Lindsay A Farrer; Matthew P Frosch; Bernardino Ghetti; Jonathan L Haines; Bradley T Hyman; Walter A Kukull; Richard P Mayeux; Margaret A Pericak-Vance; Julie A Schneider; John Q Trojanowski; Eric M Reiman; Gerard D Schellenberg; Thomas J Montine
Journal:  PLoS Genet       Date:  2014-09-04       Impact factor: 5.917

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  15 in total

1.  Characterization of AD-like phenotype in aged APPSwe/PS1dE9 mice.

Authors:  Huang Huang; Sipei Nie; Min Cao; Charles Marshall; Junying Gao; Na Xiao; Gang Hu; Ming Xiao
Journal:  Age (Dordr)       Date:  2016-07-21

2.  Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex.

Authors:  Sam B Choi; Marta Zamarbide; M Chiara Manzini; Peter Nemes
Journal:  J Am Soc Mass Spectrom       Date:  2016-11-16       Impact factor: 3.109

3.  Cognition and brain health among older adults in Iceland: the AGES-Reykjavik study.

Authors:  Vaka Valsdóttir; Brynja Björk Magnúsdóttir; Milan Chang; Sigurdur Sigurdsson; Vilmundur Gudnason; Lenore J Launer; María K Jónsdóttir
Journal:  Geroscience       Date:  2022-08-17       Impact factor: 7.581

4.  Chronic Noise Exposure and Risk of Dementia: A Systematic Review and Dose-Response Meta-Analysis.

Authors:  Linghao Meng; Yang Zhang; Shushan Zhang; Fugui Jiang; Leihao Sha; Yajia Lan; Lei Huang
Journal:  Front Public Health       Date:  2022-06-20

Review 5.  Sexual dimorphism in predisposition to Alzheimer's disease.

Authors:  Daniel W Fisher; David A Bennett; Hongxin Dong
Journal:  Neurobiol Aging       Date:  2018-04-17       Impact factor: 4.673

Review 6.  Dementia.

Authors:  E L Cunningham; B McGuinness; B Herron; A P Passmore
Journal:  Ulster Med J       Date:  2015-05

7.  Associations between APOE polymorphisms and seven diseases with cognitive impairment including Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies in southeast China.

Authors:  Ke-Liang Chen; Yi-Min Sun; Yan Zhou; Qian-Hua Zhao; Ding Ding; Qi-Hao Guo
Journal:  Psychiatr Genet       Date:  2016-06       Impact factor: 2.458

8.  Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort.

Authors:  Thalida E Arpawong; Neil Pendleton; Krisztina Mekli; John J McArdle; Margaret Gatz; Chris Armoskus; James A Knowles; Carol A Prescott
Journal:  PLoS One       Date:  2017-08-11       Impact factor: 3.240

9.  Late-onset dementia: a mosaic of prototypical pathologies modifiable by diet and lifestyle.

Authors:  Mark P Mattson
Journal:  NPJ Aging Mech Dis       Date:  2015-09-28

10.  A new device-aided cognitive function test, User eXperience-Trail Making Test (UX-TMT), sensitively detects neuropsychological performance in patients with dementia and Parkinson's disease.

Authors:  Naomi Kokubo; Yuma Yokoi; Yuji Saitoh; Miho Murata; Kazushi Maruo; Yoshitake Takebayashi; Issei Shinmei; Sadanobu Yoshimoto; Masaru Horikoshi
Journal:  BMC Psychiatry       Date:  2018-07-05       Impact factor: 3.630

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