NMD4C

The neuromuscular network for Canada

Bernard Brais

Biography

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, 201), 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

Pellerin, D, Ellezam, B, Korathanakhun, P, Renaud, M, Dicaire, MJ, Pilote, L et al.. Multi-system proteinopathy associated with a VCP G156S mutation in a French Canadian family. Can J Neurol Sci. 2020. 1-11 PMID:32036797

Smith, C, Care4Rare Canada Consortium, Dicaire, MJ, Brais, B, Piana, R. Neurological involvement in Glycogen Storage Disease type IXa due to PHKA2 mutation. Can J Neurol Sci. 2020. 1-13 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. PMID:31970803

Robertson, R, Conte, TC, Dicaire, MJ, Rymar, VV, Sadikot, AF, Bryson-Richardson, RJ et al.. BAG3^P215L/KO Mice as a Model of BAG3^P209L Myofibrillar Myopathy. Am. J. Pathol. 2020. PMID:31953038

Akçimen, F, Ross, JP, Bourassa, CV, Liao, C, Rochefort, D, Gama, MTD et al.. Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations. Front Genet. 2019.10 1219 PMID:31824583

Gagnon, C, Brais, B, Lessard, I, Lavoie, C, Côté, I, Mathieu, J et al.. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay. Neurology. 2019.93 (16)e1543-e1549 PMID:31534027

McNeil-Gauthier, AL, Brais, B, Rouleau, G, Anoja, N, Ducharme, S. Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report. Neurocase. .25 (3-4)133-137 PMID:31232173

Choquet, K, Pinard, M, Yang, S, Moir, RD, Poitras, C, Dicaire, MJ et al.. The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Mol Brain. 2019.12 (1)59 PMID:31221184

Accogli, A, Brais, B, Tampieri, D, La Piana, R. Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease. J Neuropsychiatry Clin Neurosci. .31 (3)276-279 PMID:31046592

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