Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
Por:
Kun-Rodrigues, C, Ross, OA, Orme, T, Shepherd, C, Parkkinen, L, Darwent, L, Hernandez, D, Ansorge, O, Clark, LN, Honig, LS, Marder, K, Lemstra, A, Scheltens, P, van der Flier, W, Louwersheimer, E, Holstege, H, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Maetzler, W, Berg, D, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, Van Deerlin, V, Trojanowski, JQ, Serrano, GE, Beach, TG, Clarimon, J, Lleo, A, Morenas-Rodriguez, E, Lesage, S, Galasko, D, Masliah, E, Santana, I, Diez, M, Pastor, P, Tienari, PJ, Myllykangas, L, Oinas, M, Revesz, T, Lees, A, Boeve, BF, Petersen, RC, Ferman, TJ, Escott-Price, V, Graff-Radford, N, Cairns, NJ, Morris, JC, Stone, DJ, Pickering-Brown, S, Mann, D, Dickson, DW, Halliday, GM, Singleton, A, Guerreiro, R, Bras, J
Publicada:
1 ene 2017
Resumen:
C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB. (C) 2016 Elsevier Inc. All rights reserved.
Filiaciones:
Kun-Rodrigues, C:
UCL Inst Neurol, Dept Mol Neurosci, London, England
Ross, OA:
Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA
Orme, T:
UCL Inst Neurol, Dept Mol Neurosci, London, England
Shepherd, C:
Neurosci Res Australia, Sydney, NSW, Australia
Univ New S Wales, Fac Med, Sch Med Sci, Sydney, NSW, Australia
Parkkinen, L:
Univ Oxford, Oxford Parkinsons Dis Ctr, Nuffield Dept Clin Neurosci, Oxford, England
Darwent, L:
UCL Inst Neurol, Dept Mol Neurosci, London, England
Hernandez, D:
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
Ansorge, O:
Univ Oxford, Oxford Parkinsons Dis Ctr, Nuffield Dept Clin Neurosci, Oxford, England
Clark, LN:
Columbia Univ, Taub Inst Alzheimer Dis & Aging Brain, New York, NY 10027 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA
Honig, LS:
Columbia Univ, Taub Inst Alzheimer Dis & Aging Brain, New York, NY 10027 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA
Marder, K:
Columbia Univ, Taub Inst Alzheimer Dis & Aging Brain, New York, NY 10027 USA
Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA
Lemstra, A:
Vrije Univ Amsterdam Med Ctr, Dept Neurol, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Vrije Univ Amsterdam Med Ctr, Alzheimer Ctr, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Scheltens, P:
Vrije Univ Amsterdam Med Ctr, Dept Neurol, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Vrije Univ Amsterdam Med Ctr, Alzheimer Ctr, Neurosci Campus Amsterdam, Amsterdam, Netherlands
van der Flier, W:
Vrije Univ Amsterdam Med Ctr, Dept Neurol, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Vrije Univ Amsterdam Med Ctr, Alzheimer Ctr, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Louwersheimer, E:
Vrije Univ Amsterdam Med Ctr, Dept Neurol, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Vrije Univ Amsterdam Med Ctr, Alzheimer Ctr, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Holstege, H:
Vrije Univ Amsterdam Med Ctr, Dept Neurol, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Vrije Univ Amsterdam Med Ctr, Alzheimer Ctr, Neurosci Campus Amsterdam, Amsterdam, Netherlands
Rogaeva, E:
Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Dept Med, Toronto, ON, Canada
St George-Hyslop, P:
Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Dept Med, Toronto, ON, Canada
Londos, E:
Lund Univ, Clin Memory Res Unit, Inst Clin Sci Malmo, Lund, Sweden
Zetterberg, H:
UCL Inst Neurol, Dept Mol Neurosci, London, England
Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Clin Neurochem Lab, Molndal, Sweden
Barber, I:
Univ Nottingham, Queens Med Ctr, Sch Life Sci, Translat Cell Sci Human Genet, Nottingham, England
Braae, A:
Univ Nottingham, Queens Med Ctr, Sch Life Sci, Translat Cell Sci Human Genet, Nottingham, England
Brown, K:
Univ Nottingham, Queens Med Ctr, Sch Life Sci, Translat Cell Sci Human Genet, Nottingham, England
Morgan, K:
Univ Nottingham, Queens Med Ctr, Sch Life Sci, Translat Cell Sci Human Genet, Nottingham, England
Maetzler, W:
Univ Tubingen, Ctr Neurol, Dept Neurodegenerat, Hertie Inst Clin Brain Res, Tubingen, Germany
Univ Kiel, Dept Neurol, Kiel, Germany
Berg, D:
Univ Tubingen, Ctr Neurol, Dept Neurodegenerat, Hertie Inst Clin Brain Res, Tubingen, Germany
Univ Kiel, Dept Neurol, Kiel, Germany
Troakes, C:
Kings Coll London, Dept Basic & Clin Neurosci, London, England
Kings Coll London, Inst Psychiat Psychol & Neurosci, London, England
Al-Sarraj, S:
Kings Coll London, Dept Basic & Clin Neurosci, London, England
Kings Coll London, Inst Psychiat Psychol & Neurosci, London, England
Lashley, T:
UCL Inst Neurol, Dept Mol Neurosci, Queen Sq Brain Bank, London, England
Holton, J:
UCL Inst Neurol, Dept Mol Neurosci, Queen Sq Brain Bank, London, England
Compta, Y:
Univ Barcelona, IDIBAPS, Hosp Clin, Neurol Serv,Clin Neurosci Inst,Movement Disorders, Barcelona, Spain
Van Deerlin, V:
Univ Penn, Perelman Sch Med, Ctr Neurodegenerat Dis Res, Dept Pathol & Lab Med, Philadelphia, PA USA
Trojanowski, JQ:
Univ Penn, Perelman Sch Med, Ctr Neurodegenerat Dis Res, Dept Pathol & Lab Med, Philadelphia, PA USA
Serrano, GE:
Banner Sun Hlth Res Inst, Sun City, AZ USA
Beach, TG:
Banner Sun Hlth Res Inst, Sun City, AZ USA
Clarimon, J:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, IIB Sant Pau, Dept Neurol, Barcelona, Catalonia, Spain
Lleo, A:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, IIB Sant Pau, Dept Neurol, Barcelona, Catalonia, Spain
Morenas-Rodriguez, E:
Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, IIB Sant Pau, Dept Neurol, Barcelona, Catalonia, Spain
Lesage, S:
Univ Paris 06, Sorbonne Univ, INSERM, CNRS,Inst Cerveau & Moelle Epiniere, Paris, France
Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Paris, France
Galasko, D:
Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA
Vet Affairs San Diego Healthcare Syst, La Jolla, CA 92161 USA
Masliah, E:
Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA
Vet Affairs San Diego Healthcare Syst, La Jolla, CA 92161 USA
Santana, I:
Ctr Hosp & Univ Coimbra, Coimbra, Portugal
Diez, M:
Univ Hosp Mutua Terrassa, Dept Neurol, Memory Unit, Barcelona, Spain
Fdn Mutua Terrassa, Barcelona, Spain
CIBERNED, Madrid, Spain
Pastor, P:
Univ Hosp Mutua Terrassa, Dept Neurol, Memory Unit, Barcelona, Spain
Fdn Mutua Terrassa, Barcelona, Spain
CIBERNED, Madrid, Spain
Tienari, PJ:
Univ Helsinki, Helsinki Univ Hosp, Dept Neurol, Res Programs Unit,Mol Neurol, Helsinki, Finland
Myllykangas, L:
Univ Helsinki, Dept Pathol, Helsinki, Finland
Oinas, M:
Helsinki Univ Hosp, Dept Neuropathol & Neurosurg, Helsinki, Finland
Univ Helsinki, Helsinki, Finland
Revesz, T:
UCL Inst Neurol, Dept Mol Neurosci, Queen Sq Brain Bank, London, England
Lees, A:
UCL Inst Neurol, Dept Mol Neurosci, Queen Sq Brain Bank, London, England
Boeve, BF:
Mayo Clin, Dept Neurol, Rochester, MN 55905 USA
Petersen, RC:
Mayo Clin, Dept Neurol, Rochester, MN 55905 USA
Ferman, TJ:
Mayo Clin, Dept Psychiat, Jacksonville, FL 32224 USA
Mayo Clin, Dept Psychol, Jacksonville, FL 32224 USA
Escott-Price, V:
Cardiff Univ, Sch Med, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales
Graff-Radford, N:
Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA
Cairns, NJ:
Washington Univ, Sch Med, Dept Neurol, Knight Alzheimers Dis Res Ctr, St Louis, MO 63110 USA
Morris, JC:
Washington Univ, Sch Med, Dept Neurol, Knight Alzheimers Dis Res Ctr, St Louis, MO 63110 USA
Stone, DJ:
Merck Res Labs, Genet & Pharmacogenom, West Point, PA USA
Pickering-Brown, S:
Univ Manchester, Fac Med & Human Sci, Inst Brain Behav & Mental Hlth, Manchester, Lancs, England
Mann, D:
Univ Manchester, Fac Med & Human Sci, Inst Brain Behav & Mental Hlth, Manchester, Lancs, England
Dickson, DW:
Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA
Halliday, GM:
Neurosci Res Australia, Sydney, NSW, Australia
Univ New S Wales, Fac Med, Sch Med Sci, Sydney, NSW, Australia
Singleton, A:
NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
Guerreiro, R:
UCL Inst Neurol, Dept Mol Neurosci, London, England
Univ Aveiro, Dept Med Sci, Aveiro, Portugal
Univ Aveiro, Inst Biomed iBiMED, Aveiro, Portugal
Bras, J:
UCL Inst Neurol, Dept Mol Neurosci, London, England
Univ Aveiro, Dept Med Sci, Aveiro, Portugal
Univ Aveiro, Inst Biomed iBiMED, Aveiro, Portugal
Green Accepted, Green Published
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