GuidelineMolecular genetics and metabolism2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Open access · greenAbstract readConsensus StatementPractice Guideline
In one paragraph
Guideline in Molecular genetics and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 13% of its field
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.
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.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.Cytotherapy · 2024Guideline
- Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.Annals of neurology · 2020Trial
- Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2.Clinical case reports · 2026Article
- Inpatient Deaths in Pediatric Leukodystrophies.Annals of the Child Neurology Society · 2026Article
- Differential COVID-19 Outcomes Across Lysosomal Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.Neurology. Genetics · 2026Review
- Preventing Parkinson's disease in the context of movement disorders: a narrative review of current evidence and future directions.Neurological research and practice · 2026Review
- Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.Journal of child neurology · 2025Article
- POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.Cureus · 2025Article
- Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.Annals of the Child Neurology Society · 2025Article
- Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach.Journal of inherited metabolic disease · 2025Article
- Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany.Orphanet journal of rare diseases · 2025Article
- POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.Pediatric neurology · 2025Article
- Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan.Molecular genetics and metabolism · 2025Article
- AnMolecular therapy. Methods & clinical development · 2024Article
- Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.Biomolecules · 2024Review
- The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.Orphanet journal of rare diseases · 2024Article
- Mapping the journey of patients and care partners living with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: developing a framework for improvements in care.Neurodegenerative disease management · 2024Article
- Approaches to diagnosis for individuals with a suspected inherited white matter disorder.Handbook of clinical neurology · 2024Review
- Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.Communications biology · 2023Article
Corrections and comments
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Authors and funding
42 authors at 20 institutions in 7 countries.
Laura A AdangDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Omar SherbiniDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Laura BallCenter for Translational Science, Children's National Medical Center, Washington, DC, USA; Department of Physical Medicine and Rehabilitation, Children's National Medical Center, Washington, DC, USA.
Miriam BloomDepartment of Pediatrics, Children's National Medical Center, Washington, DC, USA; Complex Care Program, Children's National Medical Center, Washington, DC, USA.
Anil DarbariDepartment of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's National Medical Center, Washington, DC, USA.
Hernan AmartinoServicio de Neurología Infantil, Hospital Universitario Austral, Buenos Aires, Argentina.
Donna DiVitoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Florian EichlerDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Maria EscolarDepartment of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Sarah H EvansCenter for Translational Science, Children's National Medical Center, Washington, DC, USA; Department of Physical Medicine and Rehabilitation, Children's National Medical Center, Washington, DC, USA.
Ali FatemiThe Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA.
Jamie FraserRare Disease Institute, Children's National Medical Center, Washington, DC, USA.
Leslie HollowellComplex Care Program, Children's National Medical Center, Washington, DC, USA.
Nicole JaffeDepartment of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Christopher JosephThe Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA.
Mary KarpinskiPediatric Multiple Sclerosis Center, Women and Children's Hospital, Buffalo, NY, USA.
Stephanie KellerDivision of Pediatric Neurology, Emory University, Atlanta, GA, USA.
Ryan MaddockDepartment of Pediatrics, Children's National Medical Center, Washington, DC, USA.
Edna MancillaDivision of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Bruce McClaryThe Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA.
Jana MertzAutism Spectrum Disorders Center, Women and Children's Hospital, Buffalo, NY, USA.
Kiley MorgartPsychiatric Social Work Program, The Kennedy Krieger Institute, Baltimore, MD, USA.
Thomas LanganHunter James Kelly Research Institute, Buffalo, NY, USA.
Richard LeventerDepartment of Paediatrics, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.
Sumit ParikhNeurogenetics, Neurologic Institute, Cleveland Clinic, Cleveland, OH, USA.
Amy PizzinoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Erin PrangeDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Deborah L RenaudDivision of Child and Adolescent Neurology, Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, MN, USA.
William RizzoDepartment of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
Jay ShapiroThe Hugo W. Moser Research Institute, The Kennedy Krieger Institute, Baltimore, MD, USA.
Dean SuhrMLD Foundation, West Linn, OR, USA.
Teryn SuhrMLD Foundation, West Linn, OR, USA.
Davide TondutiDepartment of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Jacque WaggonerHunter's Hope Foundation, Orchard Park, NY, USA.
Amy WaldmanDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Nicole I WolfDepartment of Child Neurology, VU University Medical Centre and Amsterdam Neuroscience, Amsterdam, The Netherlands.
Ayelet ZeremE. Wolfson Medical Center, Tel Aviv, Israel.
Joshua L BonkowskyDepartment of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Genevieve BernardDepartment of Neurology and Neurosurgery, McGill University, Montreal, Canada; Department of Pediatrics, McGill University, Montreal, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.
Keith van HarenDepartment of Neurology, Lucile Packard Children's Hospital and Stanford University School of Medicine, Stanford, CA, USA.
Adeline VanderverDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Translational Science, Children's National Medical Center, Washington, DC, USA; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: vandervera@email.chop.edu.
Global Leukodystrophy Initiative (GLIA) Consortium
Children's Hospital of Philadelphia · USChildren's National · USKennedy Krieger Institute · USCOPD Foundation · USWomen & Children's Hospital of Buffalo · USAmsterdam Neuroscience · NLChildren's Hospital of Pittsburgh · USCleveland Clinic · USEmory University · USFondazione IRCCS Istituto Neurologico Carlo Besta · ITHarvard University · USHospital Universitario Austral · ARHunter's Hope Foundation · USInsall Scott Kelly Institute · USLucile Packard Children's Hospital · USMayo Clinic · USMontreal Children's Hospital · CAThe University of Melbourne · AUUniversity of Nebraska Medical Center · USUniversity of Utah · US
Funding
Clinical and Translational Science Institute at Childrens NationalUL1TR001876 · NCATS · CHILDREN'S RESEARCH INSTITUTE · PI BELL, MICHAEL J · 2016 to 2021
$25.6MChild Health Research Career Development Award (CHRCDA) Program at Children's NationalK12HD001399 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI NATHAN KUPPERMANN · 2001 to 2026
$9.1MSterol and Isoprenoid Diseases Consortium Supplement 2018U54HD061939 · NICHD · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI BOERKOEL, CORNELIUS F · 2009 to 2018
$6.6MResearch_ProjectU54HD090257 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI VITTORIO GALLO, VITTORIO GALLO VITTORIO GALLO · 2016 to 2020
$5.9MTrans-Cellular Activation of Transcription to Analyze Dopaminergic Axon ReorganizDP2MH100008 · NIMH · UNIVERSITY OF UTAH · PI BONKOWSKY, JOSH LEITCH · 2012 to 2012
$2.2MThe effect of vitamin D3 on markers of oxidative stress in boys with X-linked ALDK23NS087151 · NINDS · STANFORD UNIVERSITY · PI VAN HAREN, KEITH · 2015 to 2019
$926kMolecular Mechanisms in Vanishing White Matter DiseaseK08NS060695 · NINDS · CHILDREN'S RESEARCH INSTITUTE · PI VANDERVER, ADELINE LUCIE · 2009 to 2013
$643kCIHRNCATS NIH HHS UL1 TR001876NICHD NIH HHS K12 HD001399NICHD NIH HHS U54 HD061939NICHD NIH HHS U54 HD090257NIMH NIH HHS DP2 MH100008NINDS NIH HHS K08 NS060695NINDS NIH HHS K23 NS087151
Abstract
Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will also address clinical topics relevant to select leukodystrophies, such as gallbladder pathology and adrenal insufficiency. The recommendations within this review rely on existing studies and consensus opinions and underscore the need for future research on evidence-based outcomes to better treat the manifestations of this unique set of genetic disorders.
Indexed as
Adrenal InsufficiencyAdultChildDemyelinating DiseasesFemaleGallbladderGenetic Predisposition to DiseaseHereditary Central Nervous System Demyelinating DiseasesHumansLeukoencephalopathiesLysosomal Storage DiseasesMaleQuality of LifeCareConsensusLeukodystrophyOutcomesPreventionTherapy
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