Evidence map›Paper›PMID 34250227›Full record

ArticleNeurology. Genetics2021

Highly Elevated Prevalence of Spinobulbar Muscular Atrophy in Indigenous Communities in Canada Due to a Founder Effect.

Jamie N Leckie, Matthew M Joel, Kristina Martens, Alexandra King, Malcolm King, Lawrence W Korngut, A P Jason de Koning, Gerald Pfeffer, Kerri L Schellenberg

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 2 pooled it
0.8field-weighted citation impact, top 33% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.

  1. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2026
    Guideline
  2. Best practice recommendations for the clinical care of spinal bulbar muscular atrophy.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2025
    Guideline
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Jamie N LeckieHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
Matthew M JoelHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
Kristina MartensHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
Alexandra KingHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
Malcolm KingHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
Lawrence W KorngutHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
A P Jason de KoningHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
Gerald PfefferHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.ORCID 0000-0002-7657-7098
Kerri L SchellenbergHotchkiss Brain Institute (J.N.L., M.M.J., K.M., L.W.K., G.P.), Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Alberta; Department of Medicine (A.K.), and Department of Community Health and Epidemiology (M.K.), University of Saskatchewan, Saskatoon; Alberta Child Health Research Institute (A.P.J.d.K., G.P.), Department of Medical Genetics, University of Calgary, Alberta; and Division of Neurology (K.L.S.), Department of Medicine, University of Saskatchewan, Saskatoon, Canada.
University of Calgary · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveSpinobulbar muscular atrophy (SBMA) is an X-linked adult-onset neuromuscular disorder that causes progressive weakness and androgen insensitivity in hemizygous males. This condition is reported to be extremely rare, but has higher prevalence in certain populations due to multiple founder effects. Anecdotal observations of a higher prevalence of SBMA in patients of Indigenous descent in Saskatchewan led us to perform this study, to estimate the disease prevalence, and to attempt to identify a founder effect.

methodsFor our prevalence estimation, we identified patients with confirmed SBMA diagnosis from the Saskatoon neuromuscular clinic database for comparison with population data available from Statistics Canada. For our haplotype analysis, participants with SBMA were recruited from 2 neuromuscular clinics, as well as 5 control participants. Clinical data were collected, as well as a DNA sample using saliva kits. We performed targeted quantification of DXS1194, DXS1111, DXS135, and DXS1125 microsatellite repeats and the

resultsWe estimate the prevalence of SBMA among persons of Indigenous descent in Saskatchewan as 14.7 per 100,000 population. Although we believe that this is an underestimate, this still appears to be the highest population prevalence for SBMA in the world. A total of 21 participants were recruited for the haplotype study, and we identified a unique haplotype that was shared among 13 participants with Indigenous ancestry. A second shared haplotype was identified in 2 participants, which may represent a second founder haplotype, but this would need to be confirmed with future studies.

conclusionsWe describe a very high prevalence of SBMA in western Canadians of Indigenous descent, which appears to predominantly be due to a founder effect. This necessitates further studies of SBMA in these populations to comprehensively ascertain the disease prevalence and allow appropriate allocation of resources to support individuals living with this chronic disease.

Identifiers

PMID34250227
PMCPMC8267784
OpenAlexW3181574281

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.