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).
Klockgether, T, Ashizawa, T, Brais, B, Chuang, R, Durr, A, Fogel, B et al.. Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. Mov Disord. 2022.37 (6)1125-1130 PMID:35475582
Muslemani, S, Lessard, I, Lavoie, C, Côté, I, Brais, B, Mathieu, J et al.. Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay. Can J Occup Ther. 2022. 84174221088417 PMID:35469466
Kanzler, CM, Lessard, I, Gassert, R, Brais, B, Gagnon, C, Lambercy, O et al.. Reliability and validity of digital health metrics for assessing arm and hand impairments in an ataxic disorder. Ann Clin Transl Neurol. 2022.9 (4)432-443 PMID:35224896
Coutelier, M, Jacoupy, M, Janer, A, Renaud, F, Auger, N, Saripella, GV et al.. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain. 2022.145 (4)1519-1534 PMID:34788392
Lessard, I, St-Gelais, R, Hébert, LJ, Côté, I, Mathieu, J, Brais, B et al.. Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay. Orphanet J Rare Dis. 2021.16 (1)432 PMID:34649570See more on PubMed