Evidence map›Paper›PMID 39308455›Full record

ArticleNeurology. Genetics2024

Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.

Emilie Groulx-Boivin, Andrea Oliveira-Carneiro, Helen Carlson, Amalia Floer, Adam Kirton, Jean Mah, Christine Saint-Martin, Roberta La Piana, Maryam Oskoui

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026
    Review
  4. 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

9 authors.

Emilie Groulx-BoivinFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0001-6459-271X
Andrea Oliveira-CarneiroFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.
Helen CarlsonFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0002-5788-0542
Amalia FloerFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.
Adam KirtonFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0001-5209-3374
Jean MahFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0002-5795-9955
Christine Saint-MartinFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0002-3632-7502
Roberta La PianaFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0002-4207-5065
Maryam OskouiFrom the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.ORCID https://orcid.org/0000-0003-1042-0108

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Most individuals with spinal muscular atrophy (SMA) on disease-modifying therapies continue to have chronic motor impairment. Insights into brain involvement in SMA may open new pathways for adjunctive therapies to optimize outcomes. We aimed to characterize macrostructural brain abnormalities detected by MRI in individuals with SMA compared with peer controls. Methods: We conducted a cross-sectional case-control study of children and adults with a confirmed genetic diagnosis of 5q SMA, and peer controls matched by age and sex. Brain MRIs acquired on a 3T MRI scanner through a standardized research protocol were reviewed to qualitatively assess the presence of macrostructural changes. The primary outcome was the presence of any structural brain anomaly on MRI. In addition, the total volume of each participant's lateral ventricles was quantified by volumetry using MRIcron. Genetic and clinical variables, including Results: A total of 42 participants completed the study (mean age 17.4, range 7-40; 67% male). Of the 21 individuals with 5q SMA, 9 (43%) had macrostructural brain abnormalities identified on MRI compared with 2 of 21 (10%) peer controls (odds ratio 7.1, 95% confidence interval 1.4-34.0). In patients with SMA, the most common structural changes were widening of the arachnoid spaces (n = 4) and ventriculomegaly (n = 4). Individuals with SMA had larger median lateral ventricular volume than their normally developing peers (9.3 mL, interquartile range [IQR] 5.5-13.1 vs 5.3 mL, IQR 3.8-9.8; Discussion: Individuals with SMA have higher rates of macrostructural brain abnormalities than their neurotypical peers, suggesting CNS involvement in SMA. Understanding changes in the brain architecture of the SMA population can inform the development of adjunct therapies targeting the CNS and potentially guide rehabilitation strategies.

Identifiers

PMID39308455
PMCPMC11415185

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.