The Neuromuscular Disease Network for Canada


Bernard Brais


Professor of Neurology, McGill University

Co-director of the Rare Neurological Diseases Group, Montreal Neurological Institute and Hospital

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Bernard Brais, MDCM, MPhil, PhD, FRCP(C) is Full Professor of Neurology and Human Genetics at McGill University in Montreal. He is a trained neuromuscular neurologist, PhD in laboratory human genetics and historian of medicine. He is co-director of the Montreal Neurological Institute’s Rare Neurological Diseases Group since 2011. He is co-director of McGill’s Neuromuscular and Neurogenetics Fellowships. His specialized practice is centered on the diagnosis and rehabilitation of rare often undiagnosed neurogenetic diseases, in particular: myopathies, ataxias, sensory neuropathies and leukoencephalopathies. Dr. Brais’ laboratory for the past 20 years has largely focussed on identifying new genes and mutations that cause hereditary diseases that are more prevalent in the French Canadian population of Quebec due to founder effects. He played a key role in the first identification of the genes responsible for: Oculopharyngeal Muscular Dystrophy (PABPN1, 1998), Hereditary sensory and autonomic neuropathy type II (HSN2/WINK1, 2004), Limb Girdle Muscular dystrophy LGMD2L-anoctamin 5 (ANO5, 2010), Posterior column ataxia and retinitis pigmentosa (FLVCR1, 2010), 0PolR3-related leukodystrophy (POLR3A and POLR3B, 2011), and congenital myopathy with fibre type disproportion (ZAK, 2017).  Since 2007, he has been an international leader on collaborative research on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).

Recent publications

Brisson, JD, Gagnon, C, Brais, B, Côté, I, Mathieu, J. A study of impairments in oculopharyngeal muscular dystrophy. Muscle Nerve. 2020. PMID:32270505

Pellerin, D, Ellezam, B, Korathanakhun, P, Renaud, M, Dicaire, MJ, Pilote, L et al.. Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family. Can J Neurol Sci. 2020.47 (3)412-415 PMID:32036797

Smith, C, Care4Rare Canada Consortium, Dicaire, MJ, Brais, B, La Piana, R. Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation. Can J Neurol Sci. 2020.47 (3)400-403 PMID:31987065

Pellerin, D, Aykanat, A, Ellezam, B, Troiano, EC, Karamchandani, J, Dicaire, MJ et al.. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. Ann. Neurol. 2020.87 (4)568-583 PMID:31970803

Robertson, R, Conte, TC, Dicaire, MJ, Rymar, VV, Sadikot, AF, Bryson-Richardson, RJ et al.. BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy. Am. J. Pathol. 2020.190 (3)554-562 PMID:31953038

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