Bernard Brais

Bernard Brais profile picture


Professor, Neurology and Human Genetics, McGill University

Neurologist and Director of the Rare Neurological Diseases Group, Montreal Neurological Institute and Hospital

NMD4C Involvement: Pillar 1: Preclinical Science, Pillar 2: Clinical Research, Theme 5: Open Science

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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 the director of the Montreal Neurological Institute’s Rare Neurological Diseases Group since 2011, and he is the director of McGill’s Adult Neurogenetics Fellowship.

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

Ouyang, R, Wan, L, Pellerin, D, Long, Z, Hu, J, Jiang, Q et al.. The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study. EBioMedicine. 2024.102 105077 PMID:38513302

Pellerin, D, Heindl, F, Wilke, C, Danzi, MC, Traschütz, A, Ashton, C et al.. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. EBioMedicine. 2024.102 105076 PMID:38507876

Scaravilli, A, Tranfa, M, Pontillo, G, Brais, B, De Michele, G, La Piana, R et al.. CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias. Cerebellum. 2024. PMID:38436911

Chen, S, Ashton, C, Sakalla, R, Clement, G, Planel, S, Bonnet, C et al.. Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy. medRxiv. 2024. PMID:38405699

Pellerin, D, Heindl, F, Traschütz, A, Rujescu, D, Hartmann, AM, Brais, B et al.. RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile. J Neurol. 2024.271 (5)2886-2892 PMID:38381176

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