Evidence map›Paper›PMID 39761695›Full record

ArticleJournal of inherited metabolic disease2025

Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.

Alena Svatkova, Ofer Pasternak, Julie B Eisengart, Kyle D Rudser, Petr Bednařík, Bryon A Mueller, Kathleen A Delaney, Elsa G Shapiro, Chester B Whitley, Igor Nestrašil

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01870375 (Longitudinal Studies of Brain Structure and Function in MPS Disorders), which is not on this 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.

NCT01870375 completednot on this map

Longitudinal Studies of Brain Structure and Function in MPS Disorders

TypeobservationalSponsorUniversity of MinnesotaRan2009 to 2019Enrolled100ConditionsMucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV
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

10 authors.

Alena SvatkovaDepartment of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0002-9188-4280
Ofer PasternakDepartments of Psychiatry and Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-7078-6446
Julie B EisengartDepartment of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0001-5340-017X
Kyle D RudserDivision of Biostatistics and Health Data Science, School of Public Health, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0001-9968-0090
Petr BednaříkDanish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Copenhagen, Denmark.ORCID 0000-0002-8828-7661
Bryon A MuellerDepartment of Psychiatry & Behavioral Sciences, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0003-2429-0391
Kathleen A DelaneyDepartment of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
Elsa G ShapiroDepartment of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0003-0276-0276
Chester B WhitleyDepartment of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0001-8895-6485
Igor NestrašilDepartment of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.ORCID 0000-0002-3833-1484

Funding

Training & EducationU54NS065768 · NINDS · UNIVERSITY OF MINNESOTA · PI WHITLEY, CHESTER B. · 2009 to 2024
$17.7M
TRD4 - Ultrahigh Field Engineering and SafetyP41EB027061 · NIBIB · UNIVERSITY OF MINNESOTA · PI Gregory John Metzger, KAMIL UGURBIL · 2019 to 2026
$11.7M
Institutional Center Cores for Advanced NeuroimagingP30NS076408 · NINDS · UNIVERSITY OF MINNESOTA · PI UGURBIL, KAMIL · 2012 to 2020
$4.2M
High Performance Connectome Upgrade for Human 3T MR ScannerS10OD017974 · OD · UNIVERSITY OF MINNESOTA · PI LIM, KELVIN O. · 2014 to 2014
$600k
HORIZON EUROPE Marie Sklodowska-Curie Actions 794986Lysosomal Disease Network U54NS065768National MPS SocietyNIBIB NIH HHS 1S10OD017974-01NIBIB NIH HHS NIBIB P41 EB027061NIBIB NIH HHS P30 NS076408NIBIB NIH HHS P41 EB027061NIH HHS S10 OD017974NINDS NIH HHS P30 NS076408NINDS NIH HHS U54 NS065768Orphan Disease Center, Perelman School of Medicine, University of Pennsylvania 303052MPSI-16-003-02Orphan Disease Center, Perelman School of Medicine, University of Pennsylvania MDBR-15-214-MPSOrphan Disease Center, Perelman School of Medicine, University of Pennsylvania MDBR-16-125-MPSSanofi Genzyme GZ-2014-11270Shire Human Genetic Therapies 4-7 year-old studyThe Ryan Foundation
6 · The paper itself

Abstract

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities. FWC analysis in MPS IH compared to HC revealed higher free-water fraction (FWF) in all WM regions with increased radial (RD) and mean diffusivity (MD). Higher RD, MD, and FWF in cingulate and FWF in temporal WM were observed in MPS IA relative to HC. FWF and RD in the corpus callosum (CC) were higher in MPS IH than in MPS IA. Reaction time was correlated with fractional anisotropy (FA) in frontal and parietal WM in MPS IH. FA in temporal and central WM correlated with d-prime in MPS IA. The HSCT age was related to FA in parietal WM and FWF in frontal WM in MPS IH. FWC delineated subtype-specific WM microstructural abnormalities linked to myelination that were more extensive in MPS IH than IA, with CC findings being a key differentiator between subtypes. Earlier age at HSCT was related to preserved WM microstructure in the brain of MPS IH patients. Free water-corrected DTI distinguishes severe and attenuated MPS I patients and reveals a relationship between attention, age at HSCT, and white matter microstructure.

Indexed as

Diffusion Tensor ImagingMucopolysaccharidosis IWhite MatterAdolescentAdultAnisotropyBrainCase-Control StudiesChildChild, PreschoolCorpus CallosumFemaleHematopoietic Stem Cell TransplantationHumansMaleWaterWaterattenuated MPSdiffusion tensor imaging (DTI)free‐waterHurler syndromeMucopolysaccharidosis type Iperivascular Virchow Robin spaces

Identifiers

PMID39761695
PMCPMC11703597

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Registered trials

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.