Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada

Ryan Lamont¹, Malcolm King^{2

3}, Alexandra King^{2

4}, Kerri Schellenberg², Gerald Pfeffer^{1

5}

Affiliations

¹ Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.
² College of Medicine, University of Saskatchewan, Saskatoon, SK, S7N 5E5, Canada.
³ Mississaugas of the Credit First Nation, ON, Canada.
⁴ Nipissing First Nation, ON, Canada.
⁵ Hotchkiss Brain Institute, Cumming School of Medicine, Department of Clinical Neurosciences, University of Calgary, Calgary, AN, T2N 4N1, Canada.

Ryan Lamont et al. Brain. 2024.

. 2024 May 3;147(5):e43-e44.

doi: 10.1093/brain/awae052.

Ryan Lamont¹, Malcolm King^{2

3}, Alexandra King^{2

4}, Kerri Schellenberg², Gerald Pfeffer^{1

5}

¹ Department of Medical Genetics, University of Calgary, Calgary, AB, T2N 4N1, Canada.
² College of Medicine, University of Saskatchewan, Saskatoon, SK, S7N 5E5, Canada.
³ Mississaugas of the Credit First Nation, ON, Canada.
⁴ Nipissing First Nation, ON, Canada.
⁵ Hotchkiss Brain Institute, Cumming School of Medicine, Department of Clinical Neurosciences, University of Calgary, Calgary, AN, T2N 4N1, Canada.

No abstract available

Conflict of interest statement

The authors report no competing interests.

1. Leckie JN, Joel MM, Martens K, et al. Highly elevated prevalence of spinobulbar muscular atrophy in indigenous communities in Canada due to a founder effect. Neurol Genet. 2021;7:e607. - PMC - PubMed
1. Zanovello M, Ibáñez K, Brown AL, et al. Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. Brain. 2023;146:2723–2729. - PMC - PubMed
1. Schmidt BJ, Greenberg CR, Allingham-Hawkins DJ, Spriggs E. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology. 2002;59:770–772. - PubMed
1. Wilton-Clark H, Al-Aghbari A, Yang J, Yokota T. Advancing epidemiology and genetic approaches for the treatment of spinal and bulbar muscular atrophy: Focus on prevalence in the indigenous population of Western Canada. Genes (Basel). 2023;14:1634. - PMC - PubMed