Evidence map›Paper›PMID 39874851›Full record

ArticleMolecular genetics and metabolism2025

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.

Josephine Kolstad, Christopher Zoppo, Jean M Johnston, Precilla D'Souza, Anna Luisa Kühn, Zeynep Vardar, Ahmet Peker, Asma Hader, Hakki Celik, Connor J Lewis and 9 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. 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. Trial
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Josephine KolstadImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA; McLean Hospital, Belmont, MA, USA.
Christopher ZoppoImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Jean M JohnstonOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Precilla D'SouzaOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Anna Luisa KühnImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Zeynep VardarImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Ahmet PekerKoç University Hospital, Istanbul, Türkiye.
Asma HaderImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Hakki CelikImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Connor J LewisOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Clifford LindsayImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Zubir S RentiyaDepartment of Radiation Oncology & Radiology, University of Virginia, Charlottesville, VA, USA.
Catherine LebelDepartment of Radiology, University of Calgary, Alberta, Canada.
Srinivasan VedanthamDepartment of Medical Imaging, University of Arizona, Tucson, AZ, USA.
Behroze VachhaImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA; Division of Neuroradiology, Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Heather L Gray-EdwardsImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Maria T AcostaOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Mohammed Salman ShazeebImage Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA. Electronic address: mohammed.shazeeb@umassmed.edu.

Funding

Pathogenesis informs therapy in the GM1 and GM2 GangliosidosesZIAHG200409 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TIFFT, CYNTHIA · 2020 to 2025
$4.1M
Intramural NIH HHS ZIA HG200409
6 · The paper itself

Abstract

objectiveGM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain volumetric changes associated with this disease. This study focuses on the late-infantile and juvenile subtypes of type II GM1 gangliosidosis, aiming to quantify brain volumetric characteristics to track disease progression.

methodsBrain volumetric analysis was conducted on 56 MRI scans from 24 type II GM1 patients (8 late-infantile and 16 juvenile) and 19 healthy controls over multiple time points. The analysis included the use of semi-automated segmentation of the whole brain, ventricles, cerebellum, corpus callosum, thalamus, caudate, and lentiform nucleus. A generalized linear model was used to compare the volumetric measurements between the patient groups and healthy controls, accounting for age as a confounding factor.

resultsBoth late-infantile and juvenile GM1 patients exhibited significant whole-brain atrophy compared to healthy controls, even after adjusting for age. Notably, the late-infantile subtype displayed more pronounced atrophy in the cerebellum, thalamus, and corpus callosum compared to the juvenile subtype. Both late-infantile and juvenile subtypes showed significantly higher ventricular volumes and a significant reduction in all other structure volumes compared to the healthy controls. The volumetric measurements also correlated well with disease severity based on clinical metrics.

conclusionsThe findings underscore the distinct brain volumetrics of the late-infantile and juvenile subtypes of GM1 gangliosidosis compared to healthy controls. These quantifications can be used as reliable imaging biomarkers to track disease progression and evaluate responses to therapeutic interventions.

Indexed as

BrainGangliosidosis, GM1Magnetic Resonance ImagingAdolescentAdultAtrophyCase-Control StudiesChildChild, PreschoolDisease ProgressionFemaleHumansInfantMaleYoung AdultBrainGM1 gangliosidosisMRIVolumetrics

Identifiers

PMID39874851
PMCPMC11875878

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Registered trials

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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.