Literature DB >> 24234360

The genetics of dementia.

Janice L Farlow1, Tatiana Foroud.   

Abstract

Over the past decade, there has been a dramatic evolution of genetic methodologies that can be used to identify genes contributing to disease. Initially, the focus was primarily on classical linkage analysis; more recently, genomewide association studies, and high-throughput whole genome and whole exome sequencing have provided efficient approaches to detect common and rare variation contributing to disease risk. Application of these methodologies to dementias has led to the nomination of dozens of causative and susceptibility genes, solidifying the recognition that genetic factors are important contributors to the disease processes. In this review, the authors focus on current knowledge of the genetics of Alzheimer's disease and frontotemporal lobar degeneration. A working understanding of the genes relevant to common dementias will become increasingly critical, as options for genetic testing and eventually gene-specific therapeutics are developed. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Entities:  

Mesh:

Year:  2013        PMID: 24234360      PMCID: PMC4024663          DOI: 10.1055/s-0033-1359313

Source DB:  PubMed          Journal:  Semin Neurol        ISSN: 0271-8235            Impact factor:   3.420


  41 in total

1.  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Authors:  U Finckh; T Müller-Thomsen; U Mann; C Eggers; J Marksteiner; W Meins; G Binetti; A Alberici; C Hock; R M Nitsch; A Gal
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  An algorithm for genetic testing of frontotemporal lobar degeneration.

Authors:  J S Goldman; R Rademakers; E D Huey; A L Boxer; R Mayeux; B L Miller; B F Boeve
Journal:  Neurology       Date:  2011-02-01       Impact factor: 9.910

3.  The apolipoprotein epsilon 4 allele in patients with Alzheimer's disease.

Authors:  R Mayeux; Y Stern; R Ottman; T K Tatemichi; M X Tang; G Maestre; C Ngai; B Tycko; H Ginsberg
Journal:  Ann Neurol       Date:  1993-11       Impact factor: 10.422

4.  Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Authors:  Marc Cruts; Ilse Gijselinck; Julie van der Zee; Sebastiaan Engelborghs; Hans Wils; Daniel Pirici; Rosa Rademakers; Rik Vandenberghe; Bart Dermaut; Jean-Jacques Martin; Cornelia van Duijn; Karin Peeters; Raf Sciot; Patrick Santens; Tim De Pooter; Maria Mattheijssens; Marleen Van den Broeck; Ivy Cuijt; Krist'l Vennekens; Peter P De Deyn; Samir Kumar-Singh; Christine Van Broeckhoven
Journal:  Nature       Date:  2006-07-16       Impact factor: 49.962

5.  A high frequency of apolipoprotein E4 isoprotein in Japanese patients with late-onset nonfamilial Alzheimer's disease.

Authors:  A Ueki; M Kawano; Y Namba; M Kawakami; K Ikeda
Journal:  Neurosci Lett       Date:  1993-12-12       Impact factor: 3.046

6.  Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.

Authors:  M G Spillantini; J R Murrell; M Goedert; M R Farlow; A Klug; B Ghetti
Journal:  Proc Natl Acad Sci U S A       Date:  1998-06-23       Impact factor: 11.205

7.  Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.

Authors:  L A Farrer; L A Cupples; J L Haines; B Hyman; W A Kukull; R Mayeux; R H Myers; M A Pericak-Vance; N Risch; C M van Duijn
Journal:  JAMA       Date:  1997 Oct 22-29       Impact factor: 56.272

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.  Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Authors:  Jill S Goldman; Susan E Hahn; Jennifer Williamson Catania; Susan LaRusse-Eckert; Melissa Barber Butson; Malia Rumbaugh; Michelle N Strecker; J Scott Roberts; Wylie Burke; Richard Mayeux; Thomas Bird
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

10.  Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

Authors:  R Sherrington; E I Rogaev; Y Liang; E A Rogaeva; G Levesque; M Ikeda; H Chi; C Lin; G Li; K Holman; T Tsuda; L Mar; J F Foncin; A C Bruni; M P Montesi; S Sorbi; I Rainero; L Pinessi; L Nee; I Chumakov; D Pollen; A Brookes; P Sanseau; R J Polinsky; W Wasco; H A Da Silva; J L Haines; M A Perkicak-Vance; R E Tanzi; A D Roses; P E Fraser; J M Rommens; P H St George-Hyslop
Journal:  Nature       Date:  1995-06-29       Impact factor: 49.962

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  3 in total

Review 1.  [Genetics of dementia].

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

Review 2.  The neurogenetics of atypical parkinsonian disorders.

Authors:  Brent L Fogel; Mary C Clark; Daniel H Geschwind
Journal:  Semin Neurol       Date:  2014-06-25       Impact factor: 3.420

3.  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

  3 in total

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