Bernard Brais MD, PhD

Contact Information

Email: bernard.brais [at] (Bernard Brais)
Tel: 514-398-8551
Recent Publications: PubMed
Academic Affiliations: Neurology and Neurosurgery
Clinical Interests: neurogenetics, founder-effect disorders, neuromuscular diseases
Research Groups: Rare Neurological DiseasesNeurodegenerative Diseases

Dr. Bernard Brais is a neurologist, co-director of the Rare Neurological Diseases group of the Montreal Neurological Institute and Hospital.  He completed his MDCM, Neurology residency and PhD at McGill. He is also trained as a historian of neurosciences and genetics. He 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.

Selected Publications 

Bayat V, Thiffault I, Jaiswal M, Tetreault , Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge E, Graham BH, Brais B, Bellen HJ. Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans. PLoS Biology, March 2012, vol. 10, issue 3.

Thiffaut I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Lariviere R, Gehring K, Montpetit A, McPherson P, Richter A, Mitchell, GA, Dupre N, Prevost C, Bouchard JP, Mathieu J, Brais B. Diversity of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) SACS mutations in French-Canadians. Canadian Journal of Neurological Sciences. Submitted on 2012-01-09.

Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais, B, Chapple JP, McPherson PS. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci USA. 2012 Jan 31;109(5):1661-6.

Tetreault M, Choquet K, Orcesi S, Tonduti D, Blottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11; 89(5):652.5

Tetreault M, Srour M, Allyson J, Thiffault I, Loisel L, Robitaille Y, Bouchard JP, Brais B. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian Cluster. Can J Neurol Sci. 2011 Sep;38(5):747-52.

Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Mergabane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23.

Kozlov G, Denisov AY, Girard M, Dicaire MJ, McPherson PS, Brais B, Gehring K. Structural basis of defects in sacsin HEPN domain responsible for the spastic ataxia of Charlevoix-Saguenay, Journal of Biological Chemistry. 2011 Jun 10:286(23)20407-12. Epub 2011 Apr 20.

Brais B. Oculopharyngeal Muscular Dystrophy. Handb Clin Neurol. 2011;101:181-92. Review

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melancon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sebire G, Brais B. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 2010 Oct;11(4):457-64. Epub 2010 Jul 17.

Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell Michael I, Poulin C, Mathieu J, Bouchard JP, Brais B. DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscular Disorders. 2010 Jul;20(7):453-7. Epub 2010 Jun 17.

Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WHJP, Mahjneh I, De Visser M, Bashir R, Brais B. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. Epub 2010 Jan 21.

Loggia ML, Bushnell MC, Tetreault M, Thiffault I, Bherer C, Mohammed NK, Kuchinad AA, Laferriere A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Carriers of recessive WKN1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli. Journal of Neuroscience. 2009 Feb 18;29(7):2162-6.

Brais B. Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep. 2009 Jan;9(1) :76-82. Review.

Gosselin I, Thiffaut I, Tetreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscular Disorders. 2008 Jun;18(6):483-492. Epub 2008 Jun 3.

Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville MJ, Langelier Y, Rouleau GA, Brais B. PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression. Experimental Cell Research. 2008 May 1;314(8) :1652-66. Epub 2008 Feb 23.

Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation. Neuromuscular Disorders. 2007 Dec;17(11-12):968-9. Epub 2007-08-27.

Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B. (2007) A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 2007 Nov 13;69(20):1937-41.

Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. (2006) A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain. 2007 Feb;130(Pt 2):368-80. (Epub 2006 Sep 28)

The Montreal Neurological Institute & Hospital is a McGill University research and teaching institute; delivering the highest quality of care to patients, as part of the Neuroscience Mission of the McGill University Health Centre. The Neuro is proud to be a Killam Institution, supported by the Killam Trusts.