Locus-specific mutation databases for neurodegenerative brain diseases.

Human Mutation
M CrutsC Van Broeckhoven

Abstract

The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases make available curated information of sequence variations in genes causing Mendelian forms of the most common neurodegenerative brain disease AD, frontotemporal lobar degeneration (FTLD), and PD. They are established resources for clinical geneticists, neurologists, and researchers in need of comprehensive, referenced genetic, epidemiologic, clinical, neuropathological, and/or cell biological information of specific gene mutations in these diseases. In addition, the aggregate analysis of all information available in the databases provides unique opportunities to extract mutation characteristics and genotype-phenotype correlations, which would be otherwise unnoticed and unexplored. Such analyses revealed that 61.4% of mutations are private to one single family, while only 5.7% of mutations occur in 10 or more families. The five mutations with most frequent independent observations occur in 21% of AD, 43% of FTLD, and 48% of PD families recorded in the Mutation Databases, respectively. Although these figures are inevitably biased by a publishing policy favoring novel mutations, they probably also reflect the occurrence of mul...Continue Reading

References

Apr 1, 1997·Trends in Neurosciences·J Hardy
Jan 24, 1998·Science·R G CottonC R Scriver
Apr 1, 1998·Human Mutation·M Cruts, C Van Broeckhoven
Jan 27, 1999·Annals of Medicine·M Cruts, C Van Broeckhoven
Sep 15, 2004·Human Mutation·R RademakersC van Broeckhoven
Aug 18, 2006·Journal of Alzheimer's Disease : JAD·John Hardy
Nov 28, 2007·Annual Review of Pathology·Bruce A YanknerPatrick Loerch
Jul 9, 2008·Annals of Medicine·Nathalie BrouwersChristine Van Broeckhoven
Oct 18, 2008·Nucleic Acids Research·Kim D PruittDonna R Maglott
Mar 17, 2009·Science·Giuseppe Di FedeFabrizio Tagliavini
Jun 6, 2009·Brain : a Journal of Neurology·Fabienne ClotUNKNOWN French Dystonia Network
Oct 12, 2010·Nucleic Acids Research·Ruth L SealElspeth A Bruford
Mar 26, 2011·Human Mutation·Adam J WebbUNKNOWN GEN2PHEN Consortium
Dec 6, 2011·Nucleic Acids Research·Eric W SayersJian Ye
May 11, 2012·Human Mutation·Sebastian KöhlerPeter N Robinson
Jul 4, 2012·Human Mutation·Christina M Lill, Lars Bertram

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Citations

Aug 15, 2012·Acta Neuropathologica·Anne SiebenMarc Cruts
Nov 13, 2012·Neurogenetics·R M Damian HolsingerPadraig Strappe
Dec 15, 2012·Molecular Neurobiology·Gernot KleinbergerChristine Van Broeckhoven
Sep 17, 2013·Trends in Endocrinology and Metabolism : TEM·Andrew D NguyenRobert V Farese
Jun 12, 2013·Trends in Neurosciences·Marc CrutsChristine Van Broeckhoven
Nov 16, 2012·The New England Journal of Medicine·Thorlakur JonssonKari Stefansson
Mar 5, 2013·Proceedings of the National Academy of Sciences of the United States of America·Bettina SchmidChristian Haass
Aug 1, 2013·Human Molecular Genetics·Jonathan Janssens, Christine Van Broeckhoven
Nov 21, 2013·Acta Neuropathologica Communications·Julia Banzhaf-StrathmannDieter Edbauer
Oct 18, 2013·Alzheimer's Research & Therapy·Krista L MoulderJohn C Morris
Sep 27, 2013·PloS One·Christopher D Nelson, Morgan Sheng
Apr 15, 2014·Clinical Interventions in Aging·Eva BagyinszkySangYun Kim
Feb 4, 2014·Trends in Cell Biology·Konstanze F Winklhofer
Jul 22, 2014·Current Genetic Medicine Reports·Crystal Humphries, Martin A Kohli
Jun 24, 2014·BioMed Research International·Zhangyu ZouHuapin Huang
Feb 15, 2014·Human Molecular Genetics·Christina R MuratoreTracy L Young-Pearse
Dec 18, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Katherine JackmanCostantino Iadecola
Oct 17, 2015·International Journal of Molecular Sciences·Liang Shen, Hong-Fang Ji
Nov 20, 2013·Experimental Neurology·John Hardy, Ekaterina Rogaeva
Feb 5, 2016·Molecular Neurobiology·Junjun ZhaoJianliang Zhang
Feb 13, 2016·Frontiers in Aging Neuroscience·Roberta ZanardiniRoberta Ghidoni
Jan 27, 2016·Neurobiology of Aging·Gernot KleinbergerChristian Haass
Nov 13, 2012·Archives of Medical Research·María Elisa Alonso VilatelaPetra Yescas-Gómez
Nov 10, 2015·Neuroscience Letters·Andrea TeddeBenedetta Nacmias
Oct 29, 2015·Neurobiology of Aging·Minerva M CarrasquilloNilüfer Ertekin-Taner
Oct 1, 2015·Neurobiology of Aging·Mingrong XiaJiewen Zhang
Feb 26, 2015·The FEBS Journal·Marjan SeirafiKalle Gehring
Nov 4, 2015·Frontiers in Aging Neuroscience·Giacomina Rossi, Fabrizio Tagliavini
Aug 15, 2012·Human Mutation·María-Jesús SobridoLars Bertram
Dec 10, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·M BoziL Stefanis
May 23, 2013·Neuropathology and Applied Neurobiology·E GelpiR Sanchez-Valle
Dec 17, 2014·Neuropathology and Applied Neurobiology·G G Kovacs
Oct 22, 2014·Molecular Genetics & Genomic Medicine·Joseph H LeeRichard Mayeux

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Software Mentioned

AlzGene
PDGene
Mutalyzer

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