Literature DB >> 22721568

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.

Elisa Majounie1, Yevgeniya Abramzon, Alan E Renton, Margaux F Keller, Bryan J Traynor, Andrew B Singleton.   

Abstract

The concept of a pathological overlap between neurodegenerative disorders is gaining momentum. We sought to determine the contribution of C9orf72 repeat expansions, recently discovered as a cause of frontotemporal dementia and amyotrophic lateral sclerosis, in a large number of Parkinson's disease patients. No large expansions were identified in our cohort.
Copyright © 2012. Published by Elsevier Inc.

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Year:  2012        PMID： 22721568      PMCID： PMC4545506          DOI： 10.1016/j.neurobiolaging.2012.05.007

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  14 in total

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Authors:  Suzanne Lesage; Alexis Brice
Journal:  Parkinsonism Relat Disord       Date:  2012-01       Impact factor: 4.891

2.  Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Authors:  Adriano Chiò; Giuseppe Borghero; Maura Pugliatti; Anna Ticca; Andrea Calvo; Cristina Moglia; Roberto Mutani; Maura Brunetti; Irene Ossola; Maria Giovanna Marrosu; Maria Rita Murru; Gianluca Floris; Antonino Cannas; Leslie D Parish; Paola Cossu; Yevgeniya Abramzon; Janel O Johnson; Michael A Nalls; Sampath Arepalli; Sean Chong; Dena G Hernandez; Bryan J Traynor; Gabriella Restagno
Journal:  Arch Neurol       Date:  2011-01-10

3.  Early onset Parkinsonism associated with an intronic SOD1 mutation.

Authors:  Imen Kacem; Benoît Funalot; Frédéric Torny; Géraldine Lautrette; Peter M Andersen; Philippe Couratier
Journal:  Amyotroph Lateral Scler       Date:  2012-01-03

Review 4.  A systematic review of prevalence studies of dementia in Parkinson's disease.

Authors:  Dag Aarsland; Julia Zaccai; Carol Brayne
Journal:  Mov Disord       Date:  2005-10       Impact factor: 10.338

5.  Parkinsonism and motor neuron diseases: twenty-seven patients with diverse overlap syndromes.

Authors:  Rebecca M Wolf Gilbert; Stanley Fahn; Hiroshi Mitsumoto; Lewis P Rowland
Journal:  Mov Disord       Date:  2010-09-15       Impact factor: 10.338

6.  Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.

Authors:  Michael A Nalls; Vincent Plagnol; Dena G Hernandez; Manu Sharma; Una-Marie Sheerin; Mohamad Saad; J Simón-Sánchez; Claudia Schulte; Suzanne Lesage; Sigurlaug Sveinbjörnsdóttir; Kári Stefánsson; Maria Martinez; John Hardy; Peter Heutink; Alexis Brice; Thomas Gasser; Andrew B Singleton; Nicholas W Wood
Journal:  Lancet       Date:  2011-02-01       Impact factor: 79.321

7.  Repeat expansion in C9ORF72 in Alzheimer's disease.

Authors:  Elisa Majounie; Yevgeniya Abramzon; Alan E Renton; Rodney Perry; Susan S Bassett; Olga Pletnikova; Juan C Troncoso; John Hardy; Andrew B Singleton; Bryan J Traynor
Journal:  N Engl J Med       Date:  2012-01-04       Impact factor: 91.245

8.  A two-stage meta-analysis identifies several new loci for Parkinson's disease.

Authors: 
Journal:  PLoS Genet       Date:  2011-06-30       Impact factor: 5.917

9.  Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.

Authors:  Marialuisa Quadri; Giovanni Cossu; Valeria Saddi; Erik J Simons; Daniela Murgia; Maurizio Melis; Anna Ticca; Ben A Oostra; Vincenzo Bonifati
Journal:  Neurogenetics       Date:  2011-06-11       Impact factor: 2.660

10.  Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Authors:  Johnathan Cooper-Knock; Christopher Hewitt; J Robin Highley; Alice Brockington; Antonio Milano; Somai Man; Joanne Martindale; Judith Hartley; Theresa Walsh; Catherine Gelsthorpe; Lynne Baxter; Gillian Forster; Melanie Fox; Joanna Bury; Kin Mok; Christopher J McDermott; Bryan J Traynor; Janine Kirby; Stephen B Wharton; Paul G Ince; John Hardy; Pamela J Shaw
Journal:  Brain       Date:  2012-03       Impact factor: 13.501
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  24 in total

1.  C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

Authors:  Antonino Cannas; Paolo Solla; Giuseppe Borghero; Gian Luca Floris; Adriano Chio; Marcello Mario Mascia; Nicola Modugno; Antonella Muroni; Gianni Orofino; Francesca Di Stefano; Andrea Calvo; Cristina Moglia; Gabriella Restagno; Mario Meloni; Rita Farris; Daniela Ciaccio; Roberta Puddu; Melisa Iris Vacca; Rosanna Melis; Maria Rita Murru; Stefania Tranquilli; Daniela Corongiu; Marcella Rolesu; Stefania Cuccu; Maria Giovanna Marrosu; Francesco Marrosu
Journal:  J Neurol       Date:  2015-08-15       Impact factor: 4.849

2.  TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.

Authors:  Marka van Blitterswijk; Bianca Mullen; Alexandra M Nicholson; Kevin F Bieniek; Michael G Heckman; Matthew C Baker; Mariely DeJesus-Hernandez; Nicole A Finch; Patricia H Brown; Melissa E Murray; Ging-Yuek R Hsiung; Heather Stewart; Anna M Karydas; Elizabeth Finger; Andrew Kertesz; Eileen H Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo J Hatanpaa; Charles L White; Michael J Strong; Thomas G Beach; Zbigniew K Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucelli; Keith A Josephs; Joseph E Parisi; David S Knopman; Ronald C Petersen; Ian R Mackenzie; William W Seeley; Lea T Grinberg; Bruce L Miller; Kevin B Boylan; Neill R Graff-Radford; Bradley F Boeve; Dennis W Dickson; Rosa Rademakers
Journal:  Acta Neuropathol       Date:  2014-01-03       Impact factor: 17.088

Review 3.  How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

Authors:  Marka van Blitterswijk; Mariely DeJesus-Hernandez; Rosa Rademakers
Journal:  Curr Opin Neurol       Date:  2012-12       Impact factor: 5.710

4.  C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Authors:  Suzanne Lesage; Isabelle Le Ber; Christel Condroyer; Emmanuel Broussolle; Audrey Gabelle; Stéphane Thobois; Florence Pasquier; Karl Mondon; Patrick A Dion; Daniel Rochefort; Guy A Rouleau; Alexandra Dürr; Alexis Brice
Journal:  Brain       Date:  2013-02       Impact factor: 13.501

Review 5.  From animal models to human disease: a genetic approach for personalized medicine in ALS.

Authors:  Vincent Picher-Martel; Paul N Valdmanis; Peter V Gould; Jean-Pierre Julien; Nicolas Dupré
Journal:  Acta Neuropathol Commun       Date:  2016-07-11       Impact factor: 7.801

6.  C9ORF72 repeat expansions in Chinese patients with Parkinson's disease and multiple system atrophy.

Authors:  Xueping Chen; Yongping Chen; Qianqian Wei; Ruwei Ou; Bei Cao; Bi Zhao; Hui-Fang Shang
Journal:  J Neural Transm (Vienna)       Date:  2016-07-29       Impact factor: 3.575

Review 7.  Frontotemporal dementia: a bridge between dementia and neuromuscular disease.

Authors:  Adeline S L Ng; Rosa Rademakers; Bruce L Miller
Journal:  Ann N Y Acad Sci       Date:  2014-12-30       Impact factor: 5.691

8.  Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.

Authors:  Karen Nuytemans; Vanessa Inchausti; Gary W Beecham; Liyong Wang; Dennis W Dickson; John Q Trojanowski; Virginia M-Y Lee; Deborah C Mash; Matthew P Frosch; Tatiana M Foroud; Lawrence S Honig; Thomas J Montine; Ted M Dawson; Eden R Martin; William K Scott; Jeffery M Vance
Journal:  Mov Disord       Date:  2014-02-26       Impact factor: 10.338

Review 9.  C9ORF72 mutations in neurodegenerative diseases.

Authors:  Ying Liu; Jin-Tai Yu; Yu Zong; Jing Zhou; Lan Tan
Journal:  Mol Neurobiol       Date:  2013-08-10       Impact factor: 5.590

10.  Parkinson disease is not associated with C9ORF72 repeat expansions.

Authors:  Matthew B Harms; Drexel Neumann; Bruno A Benitez; Breanna Cooper; David Carrell; Brad A Racette; Joel S Perlmutter; Alison Goate; Carlos Cruchaga
Journal:  Neurobiol Aging       Date:  2012-10-30       Impact factor: 4.673
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