Evidence map›Paper›PMID 39966257›Full record

ArticleCerebellum (London, England)2025

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.

Olivia E Rowe, D Rangaprakash, Florian S Eichler, Jeremy D Schmahmann, Robert L Barry, Christopher D Stephen

Abstract read
In one paragraph

Article in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
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

6 authors.

Olivia E RoweAthinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 149 13th Street, Charlestown, MA, USA. oerowe27@gmail.com.
D RangaprakashAthinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 149 13th Street, Charlestown, MA, USA.
Florian S EichlerCenter for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Jeremy D SchmahmannAtaxia Center, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Robert L Barry *Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 149 13th Street, Charlestown, MA, USA.
Christopher D Stephen *Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.

Funding

Training and Dissemination CoreP41EB030006 · NIBIB · MASSACHUSETTS GENERAL HOSPITAL · PI Susie Yi Huang · 2020 to 2026
$10.9M
Project 4P41EB015896 · NIBIB · MASSACHUSETTS GENERAL HOSPITAL · PI ROSEN, BRUCE R · 2012 to 2018
$9.8M
Spinal cord functional connectivity as a biomarker of spinal cord dysfunctionR01EB027779 · NIBIB · MASSACHUSETTS GENERAL HOSPITAL · PI BARRY, ROBERT L · 2019 to 2022
$2.7M
Clinical Trial Readiness In X-Linked Dystonia Parkinsonism: Assessment of Sensor-Based And Blood Biomarkers for Early Detection and Monitoring Disease ProgressionK23NS118045 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI STEPHEN, CHRISTOPHER D · 2021 to 2025
$1.1M
Functional Imaging and resting state connectivity in human spinal cord at 7 TeslaR00EB016689 · NIBIB · MASSACHUSETTS GENERAL HOSPITAL · PI BARRY, ROBERT L · 2016 to 2018
$747k
Center for Functional Neuroimaging Technologies P41EB015896Center for Mesoscale Mapping P41EB030006NIBIB NIH HHS P41 EB015896NIBIB NIH HHS P41 EB030006NIBIB NIH HHS R00 EB016689NIBIB NIH HHS R01 EB027779NIH HHS GLIA-CTN U54TR002823NIH HHS R00EB016689NINDS NIH HHS K23 NS118045
6 · The paper itself

Abstract

Late-Onset GM2-Gangliosidoses (LOGG) are rare, neurodegenerative lysosomal disorders that include late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) subtypes. Cerebellar atrophy is common, even in the absence of clinical ataxia, particularly in LOTS. Recent reports have also described brainstem atrophy in LOTS. We assessed brainstem substructure atrophy in LOGG, including LOSD. 10 LOGG patients (7 LOTS, 3 LOSD) and 7 age-matched controls had structural MRI brain imaging. A FreeSurfer brainstem substructure module was used for automatic segmentation and included the pons, medulla, superior cerebellar peduncle (SCP), midbrain, and total brainstem. Clinical ataxia severity was assessed with the LOTS Severity Scale, Brief Ataxia Rating Scale, Friedreich's Ataxia Rating Scale and Scale for the Assessment and Rating of Ataxia. There were differences between LOGG and controls in the pons (12,785.06 ± 1,603.84 vs. 15,457.14 ± 2,748.41 mm

Indexed as

Brain StemGangliosidoses, GM2AdultAgedAtrophyFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedLate-Onset GM2-GangliosidosisSandhoff diseaseStructural MRITay-Sachs disease

Identifiers

PMID39966257
PMCPMC12083863

What OpenQuestion holds

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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.