C9orf72

Summary

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

Top Publications

  1. pmc 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
  2. doi 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
  3. pmc Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
    Elisa Majounie
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Lancet Neurol 11:323-30. 2012
  4. pmc Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, M6 8HD, UK
    Brain 135:693-708. 2012
  5. pmc Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
    Melissa E Murray
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Acta Neuropathol 122:673-90. 2011
  6. pmc 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
  7. pmc 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
  8. pmc Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
    Ging Yuek R Hsiung
    Division of Neurology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
    Brain 135:709-22. 2012
  9. pmc Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
    Susan Byrne
    Department of Neurology, Beaumont Hospital, Dublin, Ireland
    Lancet Neurol 11:232-40. 2012
  10. doi The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
    Javier Simon-Sanchez
    Department of Clinical Genetics, VU University Medical Centre, 1007 MB Amsterdam, The Netherlands
    Brain 135:723-35. 2012

Research Grants

  1. Gene interaction in development and disease
    Miriam H Meisler; Fiscal Year: 2010
  2. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2003
  3. NEUROMUSCULAR DISEASE GENE ENCODING A NEW SODIUM CHANNEL
    MIRIAM MEISLER; Fiscal Year: 2000
  4. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    Miriam H Meisler; Fiscal Year: 2010
  5. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2009
  6. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2007
  7. MICHIGAN PREDOCTORAL TRAINING PROGRAM IN GENETICS
    MIRIAM MEISLER; Fiscal Year: 2007
  8. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2007
  9. INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICE
    MIRIAM MEISLER; Fiscal Year: 1999
  10. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1991

Scientific Experts

  • Adriano Chio
  • Julie S Snowden
  • Chiara Cerami
  • Tiffany W Chow
  • MIRIAM MEISLER
  • Peter Bede
  • Claire Troakes
  • Susan Byrne
  • Elisa Majounie
  • Roger Pamphlett
  • Christine Van Broeckhoven
  • Marco Luigetti
  • Suzanne Granhøj Lindquist
  • Estrella Gomez-Tortosa
  • J L Whitwell
  • Antonia Ratti
  • Adam Boxer
  • B Boeve
  • Rosa Rademakers
  • Mariely DeJesus-Hernandez
  • Nicola J Rutherford
  • Kevin B Boylan
  • Dennis W Dickson
  • Bruce L Miller
  • John Hardy
  • Marc Cruts
  • Hussein Daoud
  • Matthew C Baker
  • Ronald C Petersen
  • David S Knopman
  • Zbigniew K Wszolek
  • Neill R Graff-Radford
  • Kin Mok
  • Bryan J Traynor
  • Kohji Mori
  • Marka van Blitterswijk
  • Julie van der Zee
  • Edward D Huey
  • Patrick A Dion
  • Guy A Rouleau
  • Leonel T Takada
  • Melissa E Murray
  • Anna Karydas
  • Giovanni Coppola
  • Ging Yuek R Hsiung
  • Keith A Josephs
  • Ian R Mackenzie
  • Alan E Renton
  • Matt Baker
  • Peter M Andersen
  • Vincent Meininger
  • Christopher E Shaw
  • Ammar Al-Chalabi
  • Caroline Vance
  • Mathieu Vandenbulcke
  • Thomas Arzberger
  • Isabelle Le Ber
  • Tim Van Langenhove
  • Peter P De Deyn
  • Ilse Gijselinck
  • Veerle Bäumer
  • Sebastiaan Engelborghs
  • Lubina Dillen
  • Rik Vandenberghe
  • Michael G Heckman
  • Jon Beck
  • Michael J Strong
  • William Camu
  • Jonathan D Rohrer
  • Ian R A Mackenzie
  • Colin J Mahoney
  • Manuela Neumann
  • Jamie C Fong
  • Heather Stewart
  • Jennifer S Yokoyama
  • Sharon J Sha
  • Mario Sabatelli
  • Sara Rollinson
  • William W Seeley
  • Javier Simon-Sanchez
  • Daniel H Geschwind
  • Richard W Orrell
  • Helenius J Schelhaas
  • Aleksey Shatunov
  • Bradley N Smith
  • Robert H Brown
  • Wim Robberecht
  • Leonard H van den Berg
  • Hannu Laaksovirta
  • Michael A van Es

Detail Information

Publications77

  1. pmc 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...
  2. doi 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...
  3. pmc Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
    Elisa Majounie
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Lancet Neurol 11:323-30. 2012
    We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  4. pmc Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
    Julie S Snowden
    Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, M6 8HD, UK
    Brain 135:693-708. 2012
    The identification of a hexanucleotide repeat expansion in the C9ORF72 gene as the cause of chromosome 9-linked frontotemporal dementia and motor neuron disease offers the opportunity for greater understanding of the relationship between ..
  5. pmc Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
    Melissa E Murray
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Acta Neuropathol 122:673-90. 2011
    ..of these families have linkage to chromosome 9, with hexanucleotide expansion mutation in a noncoding region of C9ORF72. Discovery of the mutation defines c9FTD/ALS...
  6. pmc 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
    ....
  7. pmc 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...
  8. pmc Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
    Ging Yuek R Hsiung
    Division of Neurology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
    Brain 135:709-22. 2012
    ..an expanded GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72)...
  9. pmc Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
    Susan Byrne
    Department of Neurology, Beaumont Hospital, Dublin, Ireland
    Lancet Neurol 11:232-40. 2012
    ..We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the cognitive and clinical ..
  10. doi The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
    Javier Simon-Sanchez
    Department of Clinical Genetics, VU University Medical Centre, 1007 MB Amsterdam, The Netherlands
    Brain 135:723-35. 2012
    ..Recently, a hexanucleotide repeat expansion in C9orf72 was identified as a major cause of both sporadic and familial frontotemporal dementia and amyotrophic lateral ..
  11. pmc Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
    Bradley F Boeve
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Brain 135:765-83. 2012
    ..While variability exists, most cases with this mutation have a characteristic spectrum of demographic, clinical, neuropsychological, neuroimaging and especially neuropathological findings...
  12. 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...
  13. doi Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study
    Roger Pamphlett
    The Stacey Motor Neuron Disease Laboratory, Department of Pathology D06, The University of Sydney, Sydney, New South Wales, Australia
    Neuroreport 23:556-9. 2012
    Abnormally expanded C9orf72 hexanucleotide repeats are found in up to 7% of patients with sporadic amyotrophic lateral sclerosis (SALS)...
  14. pmc Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
    Colin J Mahoney
    Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, London WC1N 3BG, UK
    Brain 135:736-50. 2012
    An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major cause of familial frontotemporal lobar degeneration and motor neuron disease, including cases previously identified as linked to chromosome 9...
  15. doi Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations
    Andrea Arighi
    Department of Neurological Sciences, University of Milan, Dino Ferrari Center, Fondazione Cà Granda, IRCCS Ospedale Policlinico, Milan, Italy
    J Alzheimers Dis 31:447-52. 2012
    A hexanucleotide repeat expansion in the first intron of C9ORF72 has been shown to be responsible for a high number of familial cases of amyotrophic lateral sclerosis or frontotemporal lobar degeneration with or without concomitant motor ..
  16. pmc Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation
    Leonel T Takada
    Memory and AgingCenter, University of California, San Francisco, 350 Parnassus Ave, Ste 905, San Francisco, CA 94143 1207, USA
    Arch Neurol 69:1149-53. 2012
    To describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia-amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia-amyotrophic lateral ..
  17. pmc C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
    Carol Dobson-Stone
    Neuroscience Research Australia, Sydney, Australia
    Neurology 79:995-1001. 2012
    To determine the frequency of a hexanucleotide repeat expansion in C9ORF72, a gene of unknown function implicated in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), in Australian FTD patient cohorts and to examine ..
  18. pmc Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype
    Nicola J Rutherford
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurobiol Aging 33:2950.e5-7. 2012
    Expansions of the noncoding GGGGCC hexanucleotide repeat in the Chromosome 9 open reading frame 72 (C9ORF72) gene cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)...
  19. pmc The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
    Bradley N Smith
    Department of Clinical Neurosciences, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, London, UK
    Eur J Hum Genet 21:102-8. 2013
    A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  20. doi Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
    S G Lindquist
    Department of Clinical Genetics, 4062, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    Clin Genet 83:279-83. 2013
    Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21-linked frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS)...
  21. doi Large C9orf72 repeat expansions are not a common cause of Parkinson's disease
    Elisa Majounie
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Neurobiol Aging 33:2527.e1-2. 2012
    ..We sought to determine the contribution of C9orf72 repeat expansions, recently discovered as a cause of frontotemporal dementia and amyotrophic lateral sclerosis, ..
  22. pmc Screening for C9ORF72 repeat expansion in FTLD
    Raffaele Ferrari
    Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA
    Neurobiol Aging 33:1850.e1-11. 2012
    In the present study we aimed to determine the prevalence of C9ORF72 GGGGCC hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls...
  23. doi ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
    Adriano Chio
    Department of Neuroscience, University of Torino, Torino, Italy
    J Neurol Neurosurg Psychiatry 83:730-3. 2012
    In the isolated population of Sardinia, a Mediterranean island, ∼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene.
  24. doi An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
    Claire Troakes
    King s College London, MRC Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, De Crespigny Park, London, UK
    Neuropathology 32:505-14. 2012
    ..were excluded; however, further investigations revealed that all four of the cases did show a repeat expansion of C9orf72, the recently reported cause of chromosome 9-linked MND/ALS and FTLD...
  25. doi C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
    Antonia Ratti
    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Neurobiol Aging 33:2528.e7-14. 2012
    A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of amyotrophic lateral sclerosis (ALS) and cases with frontotemporal dementia...
  26. 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...
  27. pmc C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
    Marka van Blitterswijk
    From the Departments of Neuroscience M v B, M C B, M D H, M E M, N J R, P E B, T R, B M, P E A A, K F B, L P, D W D, R R and Neurology Z K W, K B B, N R G R, Mayo Clinic, Jacksonville, FL Proteomics Unit and NeuroBioGen Lab Memory Clinic R G, L B, G B, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy Department of Clinical Neurological Sciences E F, M J S, Schulich School of Medicine and Dentistry, The University of Western Ontario, London, Canada Division of Neurology G Y R H, and Department of Pathology and Laboratory Medicine I R M, University of British Columbia, Vancouver, Canada Department of Neurology B J K, D S K, R C P, Healthcare Hawkes Bay
    Neurology 81:1332-41. 2013
    ..phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry ..
  28. pmc Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
    Marka van Blitterswijk
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Lancet Neurol 12:978-88. 2013
    Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are the most common known genetic cause of frontotemporal dementia (FTD) and motor neuron disease (MND)...
  29. doi Incorporating new diagnostic schemas, genetics, and proteinopathy into the evaluation of frontotemporal degeneration
    Tiffany W Chow
    Baycrest Rotman Research Institute, 3560 Bathurst Street, 8th Floor Brain Health Complex, Toronto, ON M6A 2E1, Canada
    Continuum (Minneap Minn) 19:438-56. 2013
    ..Neurologists, neuropsychologists, and speech pathologists are particularly involved in the diagnosis and recognition of etiologies for patients with deficits in frontal lobe function and language...
  30. pmc C9ORF72 expansion in a family with bipolar disorder
    Miriam H Meisler
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109 5618, USA
    Bipolar Disord 15:326-32. 2013
    To investigate the role in bipolar disorder of the C9ORF72 hexanucleotide repeat expansion responsible for frontotemporal lobe dementia and amyotrophic lateral sclerosis.
  31. doi C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing
    Isabelle Le Ber
    CRicm UMRS975, Paris, France AP HP, Hopital de la Pitie Salpetriere, Centre de Référence des Démences Rares, Paris, France
    J Alzheimers Dis 34:485-99. 2013
    ..A GGGGCC expansion in C9ORF72 is a major cause of FTD and ALS...
  32. doi Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9
    Chiara Cerami
    Neurorehabilitation Unit, Department of Clinical Neurosciences, San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy
    J Alzheimers Dis 35:455-62. 2013
    b>C9ORF72 repeat expansion is currently considered as a major genetic cause of amyotrophic lateral sclerosis (ALS) and, in particular, of combined frontotemporal dementia-motor neuron disorder (FTD-MND) pedigrees...
  33. doi Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72
    Julie S Snowden
    Manchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford, UK
    Amyotroph Lateral Scler Frontotemporal Degener 14:172-6. 2013
    Repeat expansions in C9orf72 are a major cause of frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS). Not all FTD-ALS patients show expansions...
  34. doi Investigation of C9orf72 repeat expansions in Parkinson's disease
    Hussein Daoud
    Centre of Excellence in Neuroscience of Université de Montréal CENUM, CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada
    Neurobiol Aging 34:1710.e7-9. 2013
    Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia...
  35. doi Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients
    Zhang Yu Zou
    Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Neurobiol Aging 34:1710.e5-6. 2013
    An intronic GGGGCC hexanucleotide repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in white populations...
  36. doi C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment
    Rita Cacace
    Department of Molecular Genetics, VIB, Antwerp, Belgium
    Neurobiol Aging 34:1712.e1-7. 2013
    b>C9orf72 G4C2 repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Its role in Alzheimer's disease (AD) is less clear...
  37. pmc Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
    Jon Beck
    Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
    Am J Hum Genet 92:345-53. 2013
    Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS)...
  38. pmc Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis
    David J Irwin
    Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, Alzheimer s Disease Core Center, Institute on Aging, Philadelphia, Pennsylvania, USA
    J Neurol Neurosurg Psychiatry 84:163-9. 2013
    ..of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) cases with the pathogenic C9orf72 expansion (C9P) have been described...
  39. doi Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease
    Sara Rollinson
    Mental Health and Neurodegeneration Research Group, Faculty of Human and Medical Sciences, University of Manchester, AV Hill Building, Oxford Road, Manchester M13 9PT, UK
    Neurobiol Aging 33:1846.e5-6. 2012
    ..most common genetic cause of FTLD and amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in C9ORF72. To investigate whether this expansion was specific to the FTLD/ALS disease spectrum, we genotyped the ..
  40. pmc Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion
    Baber K Khan
    Department of Neurology, University of California San Francisco, San Francisco, CA, USA
    J Neurol Neurosurg Psychiatry 83:358-64. 2012
    ..Here, two patients with bvFTD-SP with chromosome 9 open reading frame 72 (C9ORF72) hexanucleotide expansions are described.
  41. pmc Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
    Adriano Chio
    Department of Neuroscience, University of Turin and Azienda Ospedale Università San Giovanni Battista of Turin, I 10126 Turin, Italy
    Brain 135:784-93. 2012
    A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophic lateral sclerosis cases of European ..
  42. doi Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort
    Tim Van Langenhove
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp CDE, Universiteitsplein 1, Antwerp, Belgium
    JAMA Neurol 70:365-73. 2013
    ..To characterize patients with frontotemporal lobar degeneration (FTLD) with a repeat expansion mutation in the gene C9orf72, and to determine whether there are differences in the clinical presentation compared with FTLD carriers of a ..
  43. doi hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
    Kohji Mori
    Adolf Butenandt Institute, Biochemistry, Ludwig Maximilians University, Schillerstr 44, 80336, Munich, Germany
    Acta Neuropathol 125:413-23. 2013
    Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic lateral sclerosis and the second most common cause of frontotemporal ..
  44. doi The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
    Kohji Mori
    Adolf Butenandt Institute, Biochemistry, Ludwig Maximilians University LMU Munich, Munich, Germany
    Science 339:1335-8. 2013
    Expansion of a GGGGCC hexanucleotide repeat upstream of the C9orf72 coding region is the most common cause of familial frontotemporal lobar degeneration and amyotrophic lateral sclerosis (FTLD/ALS), but the pathomechanisms involved are ..
  45. doi C9orf72 repeat expansions are a rare genetic cause of parkinsonism
    Suzanne Lesage
    Universite Pierre et Marie Curie Paris 6, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975 Inserm, U975, CNRS, UMR 7225, 75013 Paris, France
    Brain 136:385-91. 2013
    The recently identified C9orf72 gene accounts for a large proportion of amyotrophic lateral sclerosis and frontotemporal lobar degenerations...
  46. pmc Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p
    Heather Stewart
    Division of Neurology, University of British Columbia, Vancouver, BC, Canada
    Acta Neuropathol 123:409-17. 2012
    ..a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  47. pmc The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
    Kaalak Reddy
    Program of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    J Biol Chem 288:9860-6. 2013
    ..and frontotemporal dementia were recently shown to be caused by expansion of a (GGGGCC)n·(GGCCCC)n repeat in the C9orf72 gene...
  48. doi Pathophysiological insights into ALS with C9ORF72 expansions
    Kelly L Williams
    Australian School of Advanced Medicine, Macquarie University, Sydney, New South Wales, Australia
    J Neurol Neurosurg Psychiatry 84:931-5. 2013
    Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases...
  49. pmc Genome-wide association study identifies genetic determinants of urine PCA3 levels in men
    Zhuo Chen
    Center for Cancer Genomics, Wake Forest University School of Medicine, Winston Salem, NC, USA
    Neoplasia 15:448-53. 2013
    ..25 and 1.24, respectively). This is the first comprehensive search for genetic determinants of PCA3 score. The novel loci identified may provide insight into the molecular mechanisms of PCA3 expression as a potential marker of PCa...
  50. pmc C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex
    Beth A Dombroski
    Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA
    JAMA Neurol 70:742-5. 2013
    ..Recent findings showed that some of the Kii Peninsula ALS cases had pathogenic C9orf72 repeat expansions, a genotype that causes ALS in Western populations.
  51. pmc Multiparametric MRI study of ALS stratified for the C9orf72 genotype
    Peter Bede
    Trinity College Institute of Neuroscience TCIN, Beaumont Hospital, Dublin, Ireland
    Neurology 81:361-9. 2013
    To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype.
  52. pmc Parkinson disease is not associated with C9ORF72 repeat expansions
    Matthew B Harms
    Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA
    Neurobiol Aging 34:1519.e1-2. 2013
    Hexanucleotide expansions in the C9ORF72 gene are frequently found in patients with amyotrophic lateral sclerosis, frontotemporal dementia or both, some of whom exhibit concurrent extrapyramidal symptoms...
  53. pmc A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats
    Julie van der Zee
    Department of Molecular Genetics, VIB, Antwerp, Belgium
    Hum Mutat 34:363-73. 2013
    We assessed the geographical distribution of C9orf72 G(4) C(2) expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium...
  54. pmc Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians
    Martin A Kohli
    John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
    Neurobiol Aging 34:1519.e5-12. 2013
    Recently, a hexanucleotide repeat expansion in the C9ORF72 gene has been identified to account for a significant portion of Caucasian families affected by frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)...
  55. pmc Advances in understanding the molecular basis of frontotemporal dementia
    Rosa Rademakers
    Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
    Nat Rev Neurol 8:423-34. 2012
    ..In 2011, abnormal expansion of a hexanucleotide repeat in the gene C9orf72 was found to be the most common genetic cause of both FTD and ALS...
  56. doi Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion
    Marco Luigetti
    Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy
    Amyotroph Lateral Scler Frontotemporal Degener 14:66-9. 2013
    ..and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS ..
  57. doi Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion
    Elisabet Englund
    Department of Pathology, Lund University, Regional Laboratories Region Skåne, Lund, Sweden
    Neurobiol Aging 33:1850.e13-6. 2012
    ..Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.
  58. pmc Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features
    Sharon J Sha
    Department of Neurology, University of California, San Francisco, USA
    Neurology 79:1002-11. 2012
    To describe the phenotype of patients with C9FTD/ALS (C9ORF72) hexanucleotide repeat expansion.
  59. doi Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide
    Alberto García-Redondo
    Department of Neurology, ALS Unit, Instituto de Investigación Biomédica Hospital 12 de Octubre, Madrid, Spain
    Hum Mutat 34:79-82. 2013
    A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD)...
  60. pmc C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
    Mario Sabatelli
    Neurological Institute, Catholic University and I CO M M Association for ALS Research, Rome, Italy
    Neurobiol Aging 33:1848.e15-20. 2012
    ..dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland ..
  61. doi C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia
    Hussein Daoud
    CHUM Research Center and Department of Medicine, Centre of Excellence in Neuroscience of Université de Montréal, Canada
    Arch Neurol 69:1159-63. 2012
    To further assess the presence of a large hexanucleotide repeat expansion in the first intron of the C9orf72 gene identified as the genetic cause of chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/..
  62. doi No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden
    Chizuru Akimoto
    Department of Pharmacology and Clinical Neuroscience, Umea University, Umea, Sweden
    Amyotroph Lateral Scler Frontotemporal Degener 14:26-9. 2013
    An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia...
  63. pmc Extensive genetics of ALS: a population-based study in Italy
    Adriano Chio
    ALS Center, Department of Neurosciences, University of Torino and AOU San Giovanni Battista of Torino, Torino, Italy
    Neurology 79:1983-9. 2012
    ..To assess the frequency and clinical characteristics of patients with mutations of major amyotrophic lateral sclerosis (ALS) genes in a prospectively ascertained, population-based epidemiologic series of cases...
  64. doi Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
    Ja Hyun Jang
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Neurobiol Aging 34:1311.e7-9. 2013
    The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame (C9orf72) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian ..
  65. pmc Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome
    Mariely DeJesus-Hernandez
    Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 19:198-201. 2013
    The hexanucleotide expanded repeat (GGGGCC) in intron 1 of the C9orf72 gene is recognized as the most common genetic form of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  66. pmc C9ORF72 repeat expansions not detected in a group of patients with schizophrenia
    Edward D Huey
    Taub Institute for Research on Alzheimer s Disease and the Aging Brain, The Gertrude H Sergievsky Center, Columbia University, New York, NY 10032, USA
    Neurobiol Aging 34:1309.e9-10. 2013
    A hexanucleotide repeat expansion in C9ORF72 was recently found to cause some cases of frontotemporal lobar degeneration, frontotemporal dementia (FTD)-amyotrophic lateral sclerosis, and amyotrophic lateral sclerosis...
  67. doi Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion
    Elizabeth A Coon
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Amyotroph Lateral Scler Frontotemporal Degener 14:132-7. 2013
    ..In conclusion, this kindred demonstrates that the presentation of ALS within c9FTD/ALS families may vary considerably and electrophysiologic findings reflect this heterogeneity...
  68. doi Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72
    Takuya Konno
    Department of Molecular Neuroscience, Brain Research Institute, Niigata University, 1 757 Asahimachi dori, Chuo Ku, Niigata City, Niigata 951 8585, Japan
    J Neurol Neurosurg Psychiatry 84:398-401. 2013
    A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in white populations...
  69. pmc Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia
    Veronique V Belzil
    Centre of Excellence in Neurosciences of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada
    Eur J Hum Genet 21:237-9. 2013
    ..Recently, mutations in TARDBP, FUS/TLS, and C9ORF72 have been identified in both ALS and FTLD patients, while mutations in VCP, a FTLD associated gene, have been ..
  70. pmc 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 ..
  71. pmc 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...
  72. pmc 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...
  73. 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...

Research Grants57

  1. Gene interaction in development and disease
    Miriam H Meisler; Fiscal Year: 2010
    ....
  2. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2003
    ..The interaction between Scn8a and Scnm1 is a model for gene interactions that modify human susceptibility to inherited neurological disorders. ..
  3. NEUROMUSCULAR DISEASE GENE ENCODING A NEW SODIUM CHANNEL
    MIRIAM MEISLER; Fiscal Year: 2000
    ..Promoter function will also be assayed in transgenic mice. This work will provide thorough characterization of normal and mutated forms of a novel sodium channel and contribute to the diagnosis and treatment of neuromuscular disease. ..
  4. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    Miriam H Meisler; Fiscal Year: 2010
    ..This project will characterize the neurological and behavioral effects of specific changes in sodium channel genes, using mouse models of human mutations. ..
  5. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2009
    ..This project will characterize the neurological and behavioral effects of specific changes in sodium channel genes, using mouse models of human mutations. ..
  6. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2007
    ..This project will characterize the neurological and behavioral effects of specific changes in sodium channel genes, using mouse models of human mutations. ..
  7. MICHIGAN PREDOCTORAL TRAINING PROGRAM IN GENETICS
    MIRIAM MEISLER; Fiscal Year: 2007
    ..The GTP is one of the oldest and largest NIH-supported training programs, and continues to be a vital component of graduate education and biomedical research at the University of Michigan. ..
  8. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2007
    ..Because of the high level of alternative splicing in the nervous system, variation in SCNM1 may be of particular significance for neurological disease. ..
  9. INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICE
    MIRIAM MEISLER; Fiscal Year: 1999
    ..These projects will contribute to isolation of genes involved in craniofacial development, identification of new genetic disorders, and development of the human and mouse comparative genetic maps. ..
  10. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1991
    ..These investigations will contribute to our understanding of the molecular basis of tissue-specific and hormonal regulation of mammalian gene expression...
  11. INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICE
    MIRIAM MEISLER; Fiscal Year: 1993
    ..Insertional mutation in transgenic mice provides a powerful system for the identification and genetic mapping of new functional elements in the mammalian genome, and for molecular characterization of these new genes...
  12. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1980
    ..If we can understand how normal enzyme concentration is altered by mutation, the regulatory mechanisms responsible for maintenance of steady-state enzyme levels may be identified. ..
  13. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2009
    ..We propose to extend this work to related genes and disorders, and to generate better animal models of the human disease in order to understand the pathogenic mechanism and provide an accurate model for testing therapeutic intervention. ..
  14. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2006
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  15. 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. ..
  16. 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. ..