Evidence map›Paper›PMID 35012890›Full record

ArticleMolecular genetics and metabolism2022

Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.

Victor Kovac, Elsa G Shapiro, Kyle D Rudser, Bryon A Mueller, Julie B Eisengart, Kathleen A Delaney, Alia Ahmed, Kelly E King, Brianna D Yund, Morton J Cowan and 11 more

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

Article in Molecular genetics and metabolism, 2022. 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 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Trial
  2. Choroid Plexus Pathophysiology.Annual review of pathology · 2025
    Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. 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

21 authors.

Victor KovacDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: vjwkovac@gmail.com.
Elsa G ShapiroDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: shapi004@umn.edu.
Kyle D RudserDivision of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN, USA. Electronic address: rudser@umn.edu.
Bryon A MuellerDepartment of Psychiatry & Behavioral Sciences, University of Minnesota, Minneapolis, MN, USA. Electronic address: muell093@umn.edu.
Julie B EisengartDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: eisen139@umn.edu.
Kathleen A DelaneyDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: delan011@umn.edu.
Alia AhmedDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: ahmed306@umn.edu.
Kelly E KingDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: kingx780@umn.edu.
Brianna D YundDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: bdy@umn.edu.
Morton J CowanUCSF Benioff Children's Hospital, University of California, San Francisco, CA, USA. Electronic address: mort.cowan@ucsf.edu.
Julian RaimanDivision of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: julian.raiman@nhs.net.
Eva G MamakDepartment of Psychology, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: eva.mamak@sickkids.ca.
Paul R HarmatzUCSF Benioff Children's Hospital Oakland, Oakland, CA, USA. Electronic address: pharmatz@mail.cho.org.
Suma P ShankarDepartment of Ophthalmology and Human Genetics, Emory University, Atlanta, GA, USA. Electronic address: spshankar@ucdavis.edu.
Nadia AliDepartment of Human Genetics, Emory University, Atlanta, GA, USA. Electronic address: nadia.ali@emory.edu.
Stephanie R CagleDepartment of Human Genetics, Emory University, Atlanta, GA, USA.
Jeffrey R WozniakDepartment of Psychiatry & Behavioral Sciences, University of Minnesota, Minneapolis, MN, USA. Electronic address: jwozniak@umn.edu.
Kelvin O LimDepartment of Psychiatry & Behavioral Sciences, University of Minnesota, Minneapolis, MN, USA. Electronic address: kolim@umn.edu.
Paul J OrchardDivision of Pediatric Blood & Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: orcha001@umn.edu.
Chester B WhitleyGene Therapy Center, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA. Electronic address: whitley@umn.edu.
Igor NestrasilDivision of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Center for Magnetic Resonance Research (CMRR), Department of Radiology, Minneapolis, MN, USA. Electronic address: nestr007@umn.edu.

Funding

Engaging University of California Stakeholders for Biorespository ResearchUL1TR000004 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GRANDIS, JENNIFER RUBIN · 2012 to 2015
$78.0M
University of Minnesota Clinical and Translational Science Institute (UMN CTSI)UL1TR000114 · NCATS · UNIVERSITY OF MINNESOTA · PI BLAZAR, BRUCE R · 2012 to 2015
$35.0M
YOUTH DRUG ABUSE, ADHD, AND RELATED DISRUPTIVE DISORDERSM01RR000400 · NCRR · UNIVERSITY OF MINNESOTA TWIN CITIES · PI BACHANOVA, VERONIKA S · 1985 to 2009
$33.7M
Training & EducationU54NS065768 · NINDS · UNIVERSITY OF MINNESOTA · PI WHITLEY, CHESTER B. · 2009 to 2024
$17.7M
ZOOMED FUNCT IMAGING IN HUMAN BRAIN AT 7T W/ SIMULT HIGH SPATIAL &TEMPORAL RESP41RR008079 · NCRR · UNIVERSITY OF MINNESOTA TWIN CITIES · PI DUBINSKY, JANET M · 1993 to 2011
$16.3M
Scholar Development Clinical Research (RMI)K12RR023247 · NCRR · UNIVERSITY OF MINNESOTA TWIN CITIES · PI LUEPKER, RUSSELL V · 2005 to 2009
$13.5M
TRD4 - Ultrahigh Field Engineering and SafetyP41EB027061 · NIBIB · UNIVERSITY OF MINNESOTA · PI Gregory John Metzger · 2019 to 2026
$11.7M
Neuroscience Cores For MR Studies of the BrainP30NS057091 · NINDS · UNIVERSITY OF MINNESOTA · PI UGURBIL, KAMIL · 2006 to 2011
$8.5M
Institutional Center Cores for Advanced NeuroimagingP30NS076408 · NINDS · UNIVERSITY OF MINNESOTA · PI UGURBIL, KAMIL · 2012 to 2020
$4.2M
PTSD &Childhood Sexual Abuse: PsychobiologyR01MH063407 · NIMH · DUKE UNIVERSITY · PI DE BELLIS, MICHAEL DAMINGO · 2002 to 2007
$3.3M
CHILD NEGLECT--PSYCHOBIOLOGICAL CONSEQUENCESR01MH061744 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DE BELLIS, MICHAEL DAMINGO · 2000 to 2004
$2.0M
Adolescent Alcohol Abuse, PTSD &Hippocampal DevelopmentR01AA012479 · NIAAA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DE BELLIS, MICHAEL DAMINGO · 2001 to 2003
$1.0M
HSRD VA IIR 16-003NCATS NIH HHS UL1 TR000004NCATS NIH HHS UL1 TR000114NCRR NIH HHS K12 RR023247NCRR NIH HHS M01 RR000400NCRR NIH HHS P41 RR008079NIAAA NIH HHS R01 AA012479NIBIB NIH HHS P41 EB027061NIDA NIH HHS K24 DA028773NIH HHS S10 OD017974NIMH NIH HHS K24 MH071434NIMH NIH HHS R01 MH061744NIMH NIH HHS R01 MH063407NINDS NIH HHS P30 NS057091NINDS NIH HHS P30 NS076408NINDS NIH HHS U54 NS065768
6 · The paper itself

Abstract

objectiveTo assess our hypothesis that brain macrostructure is different in individuals with mucopolysaccharidosis type I (MPS I) and healthy controls (HC), we conducted a comprehensive multicenter study using a uniform quantitative magnetic resonance imaging (qMRI) protocol, with analyses that account for the effects of disease phenotype, age, and cognition.

methodsBrain MRIs in 23 individuals with attenuated (MPS IA) and 38 with severe MPS I (MPS IH), aged 4-25 years, enrolled under the study protocol NCT01870375, were compared to 98 healthy controls.

resultsCortical and subcortical gray matter, white matter, corpus callosum, ventricular and choroid plexus volumes in MPS I significantly differed from HC. Thicker cortex, lower white matter and corpus callosum volumes were already present at the youngest MPS I participants aged 4-5 years. Age-related differences were observed in both MPS I groups, but most markedly in MPS IH, particularly in cortical gray matter metrics. IQ scores were inversely associated with ventricular volume in both MPS I groups and were positively associated with cortical thickness only in MPS IA.

conclusionsQuantitatively-derived MRI measures distinguished MPS I participants from HC as well as severe from attenuated forms. Age-related neurodevelopmental trajectories in both MPS I forms differed from HC. The extent to which brain structure is altered by disease, potentially spared by treatment, and how it relates to neurocognitive dysfunction needs further exploration.

Indexed as

Mucopolysaccharidosis IWhite MatterBrainHumansMagnetic Resonance ImagingNeuroimagingBrain MRICortexHurler Scheie syndromeMucopolysaccharidosisQuantitative brain volumetryVentricle

Identifiers

PMID35012890
PMCPMC8898074

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.