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).
Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT et al.. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2020. PMID:33005949
Bourassa, J, Best, KL, Gagnon, C, Hébert, LJ, Brais, B, Routhier, F et al.. Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Disabil Rehabil Assist Technol. 2020. 1-9 PMID:32981404
Bourcier, D, Bélanger, M, Côté, I, Brais, B, Synofzik, M, Brisson, JD et al.. Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. J Neurol Sci. 2020.417 117050 PMID:32736199
Hodgkinson, VL, Chapman, K, Izenberg, A, Lochmüller, H, O'Connell, C, O'Ferrall, EK et al.. Response to provincial governments' decisions regarding monitoring for adults with Spinal Muscular Atrophy. Can J Neurol Sci. 2020. 1-10 PMID:32713403
Nicolau, S, Choquet, K, Bareke, E, Shao, YH, Brais, B, O'Ferrall, EK et al.. A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing. Can J Neurol Sci. 2020. 1-4 PMID:32646536See more on PubMed