Massimo Pandolfo, MD
Professor
Co-Director, Clinical Research Unit, Montreal Neurological Institute
![Massimo Pandolfo, MD Massimo Pandolfo, MD](/neurology-neurosurgery/files/neurology-neurosurgery/styles/medium_focal__220_x_220_/public/cru_dr_massimo_pandolfo_2022_dsc03469_cr.jpg?itok=mnNFdqHB)
Before coming to the Department of Neurology and Neurosurgery at ƽÌØÎå²»ÖÐ in 2021, Dr. Massimo Pandolfo was Chief of Neurology at Erasme Hospital and Professor of Neurology at the Université Libre de Bruxelles (ULB), where he was also Director of the Laboratory of Experimental Neurology. His research interests focus on neurogenetics. An international collaboration led by Dr. Pandolfo was the first to identify the Friedreich’s ataxia (FRDA) gene in 1996. He has since contributed to the study of the molecular pathogenesis of the disease, to the development of therapeutics, and to its clinical characterization.
He has been the coordinator of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) and is currently on the Board of Directors of the Ataxia Charlevoix-Saguenay Foundation. In addition, he has contributed to the study of several monogenic epilepsies and participated in genetic studies on common epilepsies and on epilepsy pharmacogenetics. He was also involved in genetic studies on brain degeneration with iron accumulation, paroxysmal non-kinesogenic dyskinesia, aceruloplasminemia, and on the predisposition to stroke.
Rare neurological diseases
1. Dionisi C, Chazalon M, Rai M, Keime C, Imbault V, Communi D, Puccio H, Schiffmann SN, Pandolfo M. . Brain Communications 2023; 5:fcad007
2. Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry P-G, Joers J, Lenglet C, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual S, Van den Eede D, Martin-Ugarte I, Vilà -Brau A, Mantilla A, Pascual M, Martinell M, Meya U, Durr A. . Neurology Genetics 2022; 8:e200034.
3. Reetz K, Dogan I, Hilgers R-D, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Dürr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, RodrÃguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer S, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and the EFACTS study group. . Lancet Neurology 2021; 20:362-372.
4. Pandolfo M, Arpa J, Delatycki MB, Le Quan Sang KH, Mariotti C, Munnich A, Sanz-Gallego I, Tai G, Tarnopolsky MA, Taroni F, Spino M, Tricta F. . Annals of Neurology 2014; 76:509-521.
5. Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PMC, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AMJM, Pandolfo M, Berkovic SF, Scheffer IE. Nature Genetics 2013; 45:546-551.
6. T. Schmitz-Hübsch, S. T. du Montcel, L. Baliko, J. Berciano, S. Boesch, C. Depondt, P. Giunti, C. Globas, J. Infante, J.-S. Kang, B. Kremer, C. Mariotti, B. Melegh, M. Pandolfo, M. Rakowicz, P. Ribai, R. Rola, L. Schöls, S. Szymanski, B. P. van de Warrenburg, A. Dürr, T. Klockgether, R. Fancellu. . Neurology 2006; 66:1717–1720.
7. M.-C. Moreira, S. Klur, M. Watanabe, A. H. Németh, I. Le Ber, J.-C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, L. Schöls, M. Pandolfo, J. B. Schulz, J. Pouget, P. Calvas, M. Shizuka-Ikeda, M. Shoji, M. Tanaka, L. Izatt, C. E. Shaw, A. M'Zahem, E. Dunne, P. Bomont, T. Benhassine, N. Bouslam, G. Stevanin, A. Brice, J. Guimarães, P. Mendonça, C. Barbot, P. Coutinho, J. Sequeiros, A. Dürr, J.-M. Warter, M. Koenig. . Nature Genetics 2004; 36:225–227.
8. M. Cossée, A. Dürr, M. Schmitt, N. Dahl, Trouillas, Allinson, M. Kostrzewa, A. Nivelon-Chevallier, K. H. Gustavson, A. Kohlschütter, U. Müller, J. L. Mandel, A. Brice, M. Koenig, F. Cavalcanti, A. Tammaro, G. De Michele, A. Filla, S. Cocozza, M. Labuda, L. Montermini, J. Poirier, M. Pandolfo. . Annals of Neurology 1999; 45:200–206.
9. M. Babcock, D. de Silva, R. Oaks, S. Davis-Kaplan, S. Jiralerspong, L. Montermini, M. Pandolfo, J. Kaplan. . Science 1997; 276:1709–1712.
10. V. Campuzano, L. Montermini, M. D. Moltò, L. Pianese, M. Cossée, F. Cavalcanti, E. Monros, F. Rodius, F. Duclos, A. Monticelli, F. Zara, J. Cañizares, H. Koutnikova, S. I. Bidichandani, C. Gellera, A. Brice, P. Trouillas, G. De Michele, A. Filla, R. De Frutos, F. Palau, P. I. Patel, S. di Donato, J. L. Mandel, S. Cocozza, M. Koenig, M. Pandolfo. Science 1996; 271:1423–1427.