C9orf72

Summary

Gene Symbol: C9orf72
Description: chromosome 9 open reading frame 72
Alias: ALSFTD, FTDALS, protein C9orf72
Species: human

Top Publications

  1. ncbi Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
    B A Hosler
    Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, MGH East, Bldg 149, 13th St, Charlestown, MA 02129, USA
    JAMA 284:1664-9. 2000
  2. ncbi Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    Mariely DeJesus-Hernandez
    Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
    Neuron 72:245-56. 2011
  3. ncbi Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
    Hannu Laaksovirta
    Department of Neurology, Helsinki University Central Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki, Finland
    Lancet Neurol 9:978-85. 2010
  4. ncbi Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
    Aleksey Shatunov
    King s College London, Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, London, UK
    Lancet Neurol 9:986-94. 2010
  5. ncbi Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
    Adam L Boxer
    UCSF Memory and Aging Center, University of California San Francisco, CA 94143, USA
    J Neurol Neurosurg Psychiatry 82:196-203. 2011
  6. ncbi Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study
    Marian Suarez-Gestal
    Laboratorio Investigacion 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria Hospital Clinico Universitario de Santiago, Travesia Choupana sn, Santiago de Compostela, 15706, Spain
    Arthritis Res Ther 12:R72. 2010
  7. ncbi Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Nat Genet 41:1083-7. 2009
  8. ncbi Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
    Caroline Vance
    Department of Neurology, King s College London School of Medicine, London, UK
    Brain 129:868-76. 2006
  9. ncbi No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis
    Jovanka Ostojic
    Uppsala University, Department of Public Health and Caring Science, Division of Geriatrics, Uppsala, Sweden
    Neurosci Lett 340:245-7. 2003
  10. ncbi A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    Alan E Renton
    Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 72:257-68. 2011

Research Grants

  1. Eye Movement Control in Normal Elderly and MCI
    Adam L Boxer; Fiscal Year: 2010
  2. Four Repeat Tauopathy Neuroimaging Initiative
    Adam L Boxer; Fiscal Year: 2010

Scientific Experts

  • Adam Boxer
  • Bryan J Traynor
  • Hannu Laaksovirta
  • Michael A van Es
  • Christopher E Shaw
  • Ammar Al-Chalabi
  • Caroline Vance
  • Mariely DeJesus-Hernandez
  • Alan E Renton
  • David Heckerman
  • Adriano Chio
  • Kin Mok
  • Sonja W Scholz
  • Pentti J Tienari
  • Liisa Myllykangas
  • Raimo Sulkava
  • Richard W Orrell
  • Michael A Nalls
  • Terhi Peuralinna
  • J Raphael Gibbs
  • Dena G Hernandez
  • John Hardy
  • Lilja Jansson
  • Jennifer C Schymick
  • Marian Suarez-Gestal
  • Aleksey Shatunov
  • Leonard H van den Berg
  • Robert H Brown
  • Jan H Veldink
  • Judith Melki
  • Orla Hardiman
  • John E Landers
  • Peter M Andersen
  • Jonathan D Glass
  • Wim Robberecht
  • Vincent Meininger
  • P Nigel Leigh
  • Jovanka Ostojic
  • Michael Sendtner
  • Stuart Pickering-Brown
  • Kate Young
  • Janel O Johnson
  • Derek Blake
  • Aleksandra Wojtas
  • Svetlana D Pack
  • Nicole A Finch
  • Jeffrey D Rothstein
  • Carsten Drepper
  • Rosa Rademakers
  • Sara Rollinson
  • Jinhui Ding
  • Huw R Morris
  • Nigel M Williams
  • Greg Toulson
  • Joanne Wuu
  • Adrian Waite
  • Zbigniew K Wszolek
  • Elina Ikonen
  • Mina Ryten
  • Alexandra M Nicholson
  • Amalia Dutra
  • Ziedulla Abdullaev
  • Nicola J Rutherford
  • Anna Lotta Kaivorinne
  • Julie Snowden
  • Anne M Remes
  • Ging Yuek R Hsiung
  • Giuseppe Borghero
  • Javier Simon-Sanchez
  • Justin Pearson
  • Hannu Kalimo
  • Jamie Duckworth
  • Can Alkan
  • Pheth Sengdy
  • Daniel H Geschwind
  • Yevgeniya Abramzon
  • Iris E Jansen
  • James Neal
  • Lorne Zinman
  • Daniel W Harmer
  • Ekaterina Rogaeva
  • John C van Swieten
  • Jennifer Adamson
  • Elisa Majounie
  • Kevin B Boylan
  • Neill R Graff-Radford
  • William W Seeley
  • Evan E Eichler
  • Bradley F Boeve
  • Dennis W Dickson

Detail Information

Publications10

  1. ncbi Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
    B A Hosler
    Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, MGH East, Bldg 149, 13th St, Charlestown, MA 02129, USA
    JAMA 284:1664-9. 2000
    ..An understanding of the genetic bases of combined disorders, such as amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD), will likely provide insight into mechanisms of these and related neurodegenerative diseases...
  2. ncbi Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    Mariely DeJesus-Hernandez
    Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
    Neuron 72:245-56. 2011
    ..Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively ..
  3. ncbi Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
    Hannu Laaksovirta
    Department of Neurology, Helsinki University Central Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki, Finland
    Lancet Neurol 9:978-85. 2010
    ..We aimed to identify genetic risk factors for ALS in the Finnish population...
  4. ncbi Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
    Aleksey Shatunov
    King s College London, Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, London, UK
    Lancet Neurol 9:986-94. 2010
    ....
  5. ncbi Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
    Adam L Boxer
    UCSF Memory and Aging Center, University of California San Francisco, CA 94143, USA
    J Neurol Neurosurg Psychiatry 82:196-203. 2011
    ..Previous studies have identified a region on chromosome 9p that is associated with FTD and ALS...
  6. ncbi Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study
    Marian Suarez-Gestal
    Laboratorio Investigacion 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria Hospital Clinico Universitario de Santiago, Travesia Choupana sn, Santiago de Compostela, 15706, Spain
    Arthritis Res Ther 12:R72. 2010
    ..This study is very important because, according to published simulations, associations as strong as the reported ones will mean that these SNPs could be used as predictors of response at the individual level...
  7. ncbi Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Nat Genet 41:1083-7. 2009
    ..01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees...
  8. ncbi Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
    Caroline Vance
    Department of Neurology, King s College London School of Medicine, London, UK
    Brain 129:868-76. 2006
    ..02 (theta = 0) at D9S1878. Recombination narrowed the conserved haplotype to 12 cM (11 Mb) at 9p13.2-21.3 (flanking markers D9S2154 and D9S1874). Bioinformatic analysis of the region has identified 103 known genes...
  9. ncbi No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis
    Jovanka Ostojic
    Uppsala University, Department of Public Health and Caring Science, Division of Geriatrics, Uppsala, Sweden
    Neurosci Lett 340:245-7. 2003
    ..Our conclusion is therefore that additional loci involved in these two disorders must be operating...
  10. ncbi A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    Alan E Renton
    Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 72:257-68. 2011
    ..We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region...

Research Grants4

  1. Eye Movement Control in Normal Elderly and MCI
    Adam L Boxer; Fiscal Year: 2010
    ..The data generated from this project will provide a new test to physicians that they can use during a patient visit to help decide who is at greatest risk for dementia and potentially who may benefit from such early treatment. ..
  2. Four Repeat Tauopathy Neuroimaging Initiative
    Adam L Boxer; Fiscal Year: 2010
    ..The data generated from this project will allow researchers to design better clinical trials to test the efficacy of new tau- directed drugs in humans. ..