Evidence map›Paper›PMID 40878963›Full record

ArticleMuscle & nerve2025

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN).

Diane Armao, Thomas W Bouldin, Diana X Bharucha-Goebel, Terry S Hartman, Steven J Gray, Rachel M Bailey, Dimah Saade, Joshua J Todd, Minal Jain, Melissa Waite and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Muscle & nerve, 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

12 authors.

Diane ArmaoDepartment of Radiology, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.ORCID https://orcid.org/0000-0002-5540-5422
Thomas W BouldinDepartment of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.
Diana X Bharucha-GoebelNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Terry S HartmanNorth Carolina Translational and Clinical Sciences Institute, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.
Steven J GrayDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Rachel M BaileyCenter for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Dimah SaadeDepartment of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Joshua J ToddNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Minal JainNational Institutes of Health, Clinical Research Center, Rehabilitation Medicine Department, Bethesda, Maryland, USA.
Melissa WaiteNational Institutes of Health, Clinical Research Center, Rehabilitation Medicine Department, Bethesda, Maryland, USA.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
J Keith SmithDepartment of Radiology, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA.

Funding

Genetics and Genomics of Muscle Postdoctoral Training ProgramT32AR056993 · NIAMS · CHILDREN'S RESEARCH INSTITUTE · PI JAISWAL, JYOTI K, PARTRIDGE, TERENCE A · 2010 to 2019
$2.2M
Giant Axonal Neuropathy Gene TherapyR01NS087175 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI ARMAO, DIANE, GRAY, STEVEN J · 2014 to 2018
$1.7M
Treatment of Peripheral Nervous System Dysfunction in Giant Axonal NeuropathyF32NS095515 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BAILEY, RACHEL M · 2015 to 2018
$147k
American Society of Gene and Cell TherapyChild Neurology SocietyHannah's Hope FundNIAMS NIH HHS 5T32AR056993NIAMS NIH HHS T32 AR056993NINDS NIH HHS F32 NS095515NINDS NIH HHS R01 NS087175NINDS NIH HHS R01NS087175
6 · The paper itself

Abstract

INTRODUCTION/

aimsGiant axonal neuropathy (GAN) is a hereditary neurodegenerative disease due to the absence or loss of function of the gigaxonin gene. Pathologic findings in GAN are those of "dying-back" axonal degeneration, in which the distal axon degenerates but the more proximal axon and neuronal cell body remain intact. Aims of this study were to (1) document imaging abnormalities that may occur in the spinal cords of GAN patients; and (2) assess histologically the spinal cords of GAN rodent models.

methodsA clinical trial of intrathecal (IT) scAAV9/JeT- GAN gene transfer provided a cohort of GAN patients for study. We examined spinal magnetic resonance imaging (MRI) studies from a subset of pretreatment GAN patients ages 6-14 years. For radiologic-pathologic correlation, we examined histologically spinal cords from GAN rodent models with pathological features of human GAN.

resultsOf 10 GAN-patient spinal MRIs, 7 showed cervical or diffuse cord atrophy. Five MRIs additionally showed hyperintense, T2-signal abnormalities bilaterally in the cervical gracile tracts. Microscopy of GAN-rodent spinal cords revealed many actively degenerating axons in the cervical gracile tracts but few degenerating axons elsewhere in the cord. DISCUSSION: The localization of spinal T-2 signal abnormalities to the cervical gracile tracts in GAN patients mirrors the localization of active dying-back axonal degeneration in GAN rodent models and suggests that these T2-signal abnormalities may be used as a surrogate marker of active axonal degeneration in the long tracts of the spinal cord in GAN and possibly other dying-back neurodegenerative diseases involving the spinal cord.

Indexed as

Cytoskeletal ProteinsGiant Axonal NeuropathySpinal CordAdolescentAnimalsAnimals, Genetically ModifiedAxonsChildClinical Trials, Phase I as TopicDependovirusDisease Models, AnimalGene Knock-In TechniquesGene Knockout TechniquesGenetic TherapyGenetic VectorsHumansCytoskeletal ProteinsGAN protein, human“dying‐back” axonal degenerationgiant axonal neuropathy (GAN)spine MRI T2‐hyperintensities

Identifiers

PMID40878963
PMCPMC12529028

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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.