Evidence map›Paper›PMID 40322871›Full record

Observational studyMovement disorders clinical practice2025

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.

Ekhlas Assaedi, Setareh Ashtiani, Mehrdad A Estiar, Ziv Gan-Or, Erica D McKenzie, Aakash Shetty, Guy Rouleau, Oksana Suchowersky

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

8 authors.

Ekhlas AssaediCollege of Medicine, Taibah University, Medina, Saudi Arabia.ORCID https://orcid.org/0009-0000-9291-8625
Setareh AshtianiDepartment of Medical Genetics, University of Calgary, Calgary, AL, Canada.
Mehrdad A EstiarBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Ziv Gan-OrDepartment of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.ORCID https://orcid.org/0000-0003-0332-234X
Erica D McKenzieDepartment of Clinical Neurosciences and Critical Care Medicine, University of Calgary, Calgary, AL, Canada.
Aakash ShettyDepartment of Medicine (Neurology), University of Alberta, Edmonton, AL, Canada.
Guy RouleauDepartment of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.ORCID https://orcid.org/0000-0001-8403-1418
Oksana SuchowerskyDepartment of Medical Genetics, University of Calgary, Calgary, AL, Canada.

Funding

CIHR RN127580-260005
6 · The paper itself

Abstract

backgroundHereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples.

objectivesTo describe clinical, radiological, and genetic features of HSP in Alberta, Canada, and evaluate genetic variability among ethnic groups.

methodsPatients with HSP were recruited between 2012 and 2021, and enrolled in an observational study. Genetic testing through research and/or clinical laboratories was performed.

results100 patients from 86 Albertan families were enrolled. Overall prevalence was 2.3 per 100,000, with 2.8 per 100,000 in the Indigenous population. Forty-eight families (56%) were found to have pathogenic variants in 17 genes, including SPAST (29.2%), SPG7 (20.8%), SPG11 (8.3%), CAPN1 (6.3%), and SACS (6.3%). 58% of families had complex HSP. 36/66 White (European) families, 5/8 Indigenous families, 4/8 Asian families and 2/3 Middle Eastern families were confirmed with a genetic diagnosis. One Black (African) family was enrolled and tested positive for PI4KA. In Indigenous families, pathogenic variants were found in CTNNB1, SACS, SPG7, and SYNE1. Abnormalities of brain MRI were more frequently observed in patients with SACS, SPG7, SPG11, and ANO10.

conclusionsThis study details findings in HSP patients in Alberta and is the first study to examine prevalence and types of HSP in the Indigenous Peoples of Alberta. It highlights the need for familiarity with the phenotypes and genotypes in the different ethnic populations in Alberta.

Indexed as

Spastic Paraplegia, HereditaryAdolescentAdultAgedAlbertaChildChild, PreschoolCohort StudiesFemaleHumansMaleMiddle AgedPrevalenceSpastinYoung AdultSpastinataxiaethnicityfirst nationsMétisspasticityspastic paraparesis

Identifiers

PMID40322871
PMCPMC12481434

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LicenceCC BY-NC-ND
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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.