Massimo Pandolfo, MD
Professor
Co-Director, Clinical Research Unit, Montreal Neurological Institute
Before coming to the Department of Neurology and Neurosurgery at McGill University 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. Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties. 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. Efficacy and Safety of Leriglitazone in Patients with Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES). 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, Rodríguez 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. Progression characteristics in Friedreich’s Ataxia: 4-year analysis of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS). 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. Deferiprone in Friedreich’s Ataxia:A Six-Month Randomized Controlled Trial. 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. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 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. Scale for the assessment and rating of ataxia: development of a new clinical scale. 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. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. 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. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 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. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. 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. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271:1423–1427.