Bernard Brais, MD, PhD
Professor
Dr. Bernard Brais is a neurologist, co-director of the Rare Neurological Diseases group of the Montreal Neurological Institute and Hospital.聽 He completed his MDCM, Neurology residency and PhD at 鲍鱼直播. He is also trained as a historian of neurosciences and genetics. His聽research largely focuses on the genetic basis of neurogenetic disorders with founder effects in Quebec, with an increasing focus on disorders with ataxic manifestations such as Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). Since 2007, he has headed a team of researchers on ARSACS. Dr. Brais has played important roles in identifying causal genes for Oculopharyngeal muscular dystrophy (OPMD), Hereditary Sensory and Autonomic Neuropathy type II (HSANII), Limb Girdle Muscular Dystrophy with Quadriceps atrophy (LGMD2L), Pol III-related leukodystrophies, and ZAK congenital myopathy.
Rare neurological diseases
C么t茅 C, Gagnon C, Youssof S, Kurtz N,聽Brais B.聽The requirement for a disease-specific patient-reported outcome measure of dysphagia in oculopharyngeal muscular dystrophy.聽Muscle Nerve. 2018 Dec 2.
Gagnon C, Lessard I, Lavoie C, C么t茅 I, St-Gelais R, Mathieu J,聽Brais B.聽An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.聽Neurology. 2018 Oct 2;91(14).
Choquet K, Yang S, Moir RD, Forget D, Lariviere R**, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rocheford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinmann CL,聽Brais B. Leukodystrophy mutation.聽Mol Brain.聽2017 Apr 13;10(1):13.
Choquet K, T茅treault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Care4Rare Canada Consortium, Boycott KM, Majewski J,聽Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.聽Eur J Hum Genet.聽2016 Jul;24(7):1016-21.
T茅treault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S,聽Brais B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.聽Brain. 2015 Jun;138:1477-83.
Lariviere R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney A, Shoubridge EA, McPherson P, Durham H,聽Brais B.聽Sacs聽knockout mice present pathophysiological defects underlyning autosomal recessive spastic ataxia of Charlevoix-Saguenay.聽Human Molecular Genetics. 2015 Feb 1;24(3):727-39.