Danek, A. (Adrian)

Filtering

2013 - 20202

Settings

Author search.filters.isAuthorOfPublication.47d58c92-b823-4f31-88a2-0c04e074e78b

Search Results

Now showing 1 - 2 of 2
  • Thumbnail Image
    Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
    (2020) Boeve, B.F. (Bradley F.); Blesa, R. (Rafael); Petersen, R.C. (Ronald C.); Schlachetzki, J.C.M. (Johannes C. M.); Thompson, E. (Elizabeth); Scarpini, E. (Elio); Graf-Radford, N.R. (Neill R.); Benussi, L. (Luisa); Ortega-Cubero, S. (Sara); Riemenschneider, M. (Matthias); Baker, M. (Matt); Giaccone, G. (Giorgio); Tagliavini, F. (Fabrizio); Spillantini, M.G. (Maria Grazia); Piguet, O. (Olivier); Ibach, B. (Bernd); Dickson, D.W. (Dennis W.); Hjermind, L.E. (Lena E.); Forloni, G. (Gianluigi); Nilsson, C. (Christer); Pijnenburg, Y.A.L. (Yolande A. L.); Serpente, M. (Maria); Grifths, T.D. (Timothy D.); Morris, C.M. (Christopher M.); Pickering-Brown, S. (Stuart); Seelaar, H. (Harro); Landqvist-Waldö, M. (Maria); Binetti, G. (Giuliano); Rosen, H. (Howard); Albani, D. (Diego); Perneczky, R. (Robert); Heutink, P. (Peter); Brice, A. (Alexis); Mann, D.M.A. (David M.A.); Trojanowski, J.Q. (John Q.); Ferrari, R. (Rafaele); Ferrucci, L. (Luigi); Padovani, A. (Alessandro); Danek, A. (Adrian); Rossor, M.N. (Martin N.); Leber, I. (Isabelle); Grafman, J. (Jordan); Sorrentino, P. (Paolo); Graf, C. (Caroline); Novelli, V. (Valeria); Dobson-Stone, C. (Carol); Gu, W. (Wei); Cruchaga, C. (Carlos); Hernandez, D.G. (Dena G.); Fenoglio, C. (Chiara); Deramecourt, V. (Vincent); Anfossi, M. (Maria); Zhao, H. (Huashuo); Franceschi, M. (Massimo); Borroni, B. (Barbara); Grossman, M. (Murray); Kapogiannis, D. (Dimitrios); Van-der-Zee, J. (Julie); Bernardi, L. (Livia); Vercelletto, M. (Martine); Rogaeva, E. (Ekaterina); Hodges, J.R. (John R.); Richardson, A. (Anna); Ghidoni, R. (Roberta); Mayhaus, M. (Manuel); Scheltens, P. (Philip); McKeith, I.G. (Ian G.); Rollin, A. (Adeline); Frangipane, F. (Francesca); Pastor, P. (Pau); Wassermann, E.M. (Eric M.); Rainero, I. (Innocenzo); Nalls, M.A. (Michael A.); Rohrer, J.D. (Jonathan D.); Van-Swieten, J.C. (John C.); Josephs, K.A. (Keith A.); Diehl-Schmid, J. (Janine); Momeni, P. (Parastoo); Fox, N.C. (Nick C.); Jaros, E. (Evelyn); Uphill, J. (James); Rossi, G. (Giacomina); Piaceri, I. (Irene); Lebouvier, T. (Thibaud); Halliday, G.M. (Glenda M.); Bagnoli, S. (Silvia); Schofeld, P.R. (Peter R.); Lleó, A. (Alberto); Cruts, M. (Marc); Nacmias, B. (Benedetta); Puca, A.A. (Annibale A.); Ramasamy, A. (Adaikalavan); Singleton, A.B. (Andrew B.); Mead, S. (Simon); Alexopoulos, P. (Panagiotis); Baborie, A. (Atik); Haan, E. (Eric); Miller, B.L. (Bruce L.); Pasquier, F. (Florence); Wang, T. (Ting); Rowe, J.B. (James B.); Razquin, C. (Cristina); Van-Deerlin, V.M. (Vivianna M.); Milan, G. (Graziella ); Bartley, L. (Lauren); Collinge, J. (John); Pinessi, L. (Lorenzo); Hernández, I. (Isabel); Rademakers, R. (Rosa); Sorbi, S. (Sandro); Attems, J. (Johannes); Capozzo, R. (Rosa); Morris, H.R. (Huw R.); Hardy, J. (John); Nielsen, J.E. (Jørgen E.); Kristiansen, M. (Mark); Smirne, N. (Nicoletta); Galimberti, D. (Daniela); Maletta, R. (Rafaele); Zeng, P. (Ping); Knopman, D. (David); Ruiz, A. (Agustín); Karydas, A.M. (Anna M.); Pichler, S. (Sabrina); Brooks, W.S. (William S.); Nilsson, K. (Karin); Dopper, E.G.P. (Elise G. P.); Rubino, E. (Elisa); Clarimon, J. (Jordi); Hannequin, D. (Didier); Huey, E.D. (Edward D.); Alonso, E. (Elena); Pietrini, P. (Pietro); Cappa, S.F. (Stefano F.); Van-Broeckhoven, C. (Christine); Gerhard, A. (Alexander); Rollinson, S. (Sara); Thomas, A.J. (Alan J.); Conidi, M.E. (Maria Elena); Tierney, M.C. (Michael C.); Bruni, A.C. (Amalia C.); Rizzu, P. (Patrizia); Gallo, M. (Maura); Cairns, N.J. (Nigel J.); Chiang, H.H. (Huei Hsin); Kurz, A. (Alexander); Kwok, J.B.J. (John B. J.); Gao, Y. (Yixin); Parisi, J.E. (Joseph E.); Seely, W.W. (William W.); Yu, X. (Xinghao); St-George Hyslop, P. (Peter); Boada, M. (Mercè); Snowden, J.S. (Julie S.); Gasparoni, G. (Gilles); Warren, J.D. (Jason D.); Postiglione, A. (Alfredo); Logroscino, G. (Giancarlo); Mackenzie, I.R.A. (Ian R.A.); Cupidi, C. (Chiara); Golfer, V. (Véronique)
    We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genomewide association studies (n= ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n= ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). We further evaluated mediation roles of lipids in the pathway from LTL to ALS. The odds ratio per standard deviation decrease of LTL on ALS was 1.10 (95% CI 0.93–1.31, p = 0.274) in the European population and 0.75 (95% CI 0.53–1.07, p = 0.116) in the Asian population. This null association was also detected between LTL and frontotemporal dementia in the European population. However, we found that an indirect efect of LTL on ALS might be mediated by low density lipoprotein (LDL) or total cholesterol (TC) in the European population. These results were robust against extensive sensitivity analyses. Overall, our MR study did not support the direct causal association between LTL and the ALS risk in neither population, but provided suggestive evidence for the mediation role of LDL or TC on the infuence of LTL and ALS in the European population.
  • Thumbnail Image
    Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis
    (Public Library of Science, 2013) Cho, J.W. (Jin Whan); Miquel, M. (Marie); Shin, H. (Hyeeun); Kefalopoulou, Z.M. (Zinovia Maria); Jarman, P. (Paul); Danek, A. (Adrian); Guridi-Legarra, J. (Jorge); Hariz, M. (Marwan); Bertram, K. (Kelly); Zrinzo, L. (Ludvic); Guehl, D. (Dominique); Lozano, A.M. (Andres M.); Bhatia, K. (Kailash); Gimenez-Roldan, S. (Santiago); Limousin, P. (Patricia); Garcia-Ruiz, P.J. (Pedro J.); Walker, R.H. (Ruth H.); Aviles-Olmos, I. (Iciar); Bader, B. (Benedikt); Moro, E. (Elena); Yokochi, F. (Fusako); Burghaus, L. (Lothar); Rodriguez-Oroz, M.C. (María Cruz); Latxague, C. (Chrystelle); Lipsman, N. (Nir); Burbaud, P. (Pierre); Shang, H. (Huifang); Cuny, E. (Emmanuel); Tison, F. (François); Foltynie, T. (Thomas); Spampinato, U. (Umberto); Ngy, D. (Dhita)
    BACKGROUND: Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS. METHODS: Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early) and 6 months or more (late) after surgery at the last follow-up visit (mean follow-up: 29.5 months). RESULTS: Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS), was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively). Functional capacity (UHDRS-Functional Capacity Score) was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively), whereas incapacity (UHDRS-Independence Score) improvement reached significance at early post-surgery only (mean 37.3%). Long term significant improvement of motor symptom severity (≥ 20 % from baseline) was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery. CONCLUSION: This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc.