Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
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 C9or...
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| Format: | Journal article |
| Langue: | English |
| Publié: |
Elsevier
2016
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| _version_ | 1826290104374657024 |
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| author | Kun-Rodrigues, C Ross, O Orme, T Shepherd, C Parkkinen, L Darwent, L Hernandez, D Ansorge, O Clark, L Honig, L 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, J Serrano, G Beach, T Clarimon, J Lleó, A Morenas-Rodríguez, E Lesage, S Galasko, D Masliah, E Santana, I Diez, M Pastor, P Tienari, P Myllykangas, L Oinas, M Revesz, T Lees, A Boeve, B Petersen, R Ferman, T Escott-Price, V Graff-Radford, N Cairns, N Morris, J Stone, D Pickering-Brown, S Mann, D Dickson, D Halliday, G Singleton, A Guerreiro, R Bras, J |
| author_facet | Kun-Rodrigues, C Ross, O Orme, T Shepherd, C Parkkinen, L Darwent, L Hernandez, D Ansorge, O Clark, L Honig, L 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, J Serrano, G Beach, T Clarimon, J Lleó, A Morenas-Rodríguez, E Lesage, S Galasko, D Masliah, E Santana, I Diez, M Pastor, P Tienari, P Myllykangas, L Oinas, M Revesz, T Lees, A Boeve, B Petersen, R Ferman, T Escott-Price, V Graff-Radford, N Cairns, N Morris, J Stone, D Pickering-Brown, S Mann, D Dickson, D Halliday, G Singleton, A Guerreiro, R Bras, J |
| author_sort | Kun-Rodrigues, C |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T02:39:05Z |
| format | Journal article |
| id | oxford-uuid:a9d1c8a4-9c97-440a-b8c5-02e8fe3d09ab |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:39:05Z |
| publishDate | 2016 |
| publisher | Elsevier |
| record_format | dspace |
| spelling | oxford-uuid:a9d1c8a4-9c97-440a-b8c5-02e8fe3d09ab2022-03-27T03:11:10ZAnalysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodiesJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:a9d1c8a4-9c97-440a-b8c5-02e8fe3d09abEnglishSymplectic Elements at OxfordElsevier2016Kun-Rodrigues, CRoss, OOrme, TShepherd, CParkkinen, LDarwent, LHernandez, DAnsorge, OClark, LHonig, LMarder, KLemstra, AScheltens, Pvan der Flier, WLouwersheimer, EHolstege, HRogaeva, ESt George-Hyslop, PLondos, EZetterberg, HBarber, IBraae, ABrown, KMorgan, KMaetzler, WBerg, DTroakes, CAl-Sarraj, SLashley, THolton, JCompta, YVan Deerlin, VTrojanowski, JSerrano, GBeach, TClarimon, JLleó, AMorenas-Rodríguez, ELesage, SGalasko, DMasliah, ESantana, IDiez, MPastor, PTienari, PMyllykangas, LOinas, MRevesz, TLees, ABoeve, BPetersen, RFerman, TEscott-Price, VGraff-Radford, NCairns, NMorris, JStone, DPickering-Brown, SMann, DDickson, DHalliday, GSingleton, AGuerreiro, RBras, JC9orf72 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. |
| spellingShingle | Kun-Rodrigues, C Ross, O Orme, T Shepherd, C Parkkinen, L Darwent, L Hernandez, D Ansorge, O Clark, L Honig, L 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, J Serrano, G Beach, T Clarimon, J Lleó, A Morenas-Rodríguez, E Lesage, S Galasko, D Masliah, E Santana, I Diez, M Pastor, P Tienari, P Myllykangas, L Oinas, M Revesz, T Lees, A Boeve, B Petersen, R Ferman, T Escott-Price, V Graff-Radford, N Cairns, N Morris, J Stone, D Pickering-Brown, S Mann, D Dickson, D Halliday, G Singleton, A Guerreiro, R Bras, J Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies |
| title | Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies |
| title_full | Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies |
| title_fullStr | Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies |
| title_full_unstemmed | Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies |
| title_short | Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies |
| title_sort | analysis of c9orf72 repeat expansions in a large international cohort of dementia with lewy bodies |
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