U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

METACHROMATIC LEUKODYSTROPHY, LATE-ONSET

MedGen UID:
865530
•Concept ID:
C4017093
•
Finding
OMIM®: 607574

Professional guidelines

PubMed

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J
Neurology 2006 Sep 12;67(5):859-63. doi: 10.1212/01.wnl.0000234129.97727.4d. PMID: 16966551

Recent clinical studies

Etiology

Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.
Zhang Z, Jiang H, Huang L, Liu S, Zhou X, Cai Y, Li M, Gao F, Liang X, Tsang KS, Chen G, Ma CY, Chai YH, Liu H, Yang C, Yang M, Zhang X, Han S, Du X, Chen L, Hwu WL, Zhuo J, Lian Q
Protein Cell 2025 Jan 4;16(1):16-27. doi: 10.1093/procel/pwae037. PMID: 38916435Free PMC Article
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A
Cytotherapy 2024 Jul;26(7):739-748. Epub 2024 Apr 1 doi: 10.1016/j.jcyt.2024.03.487. PMID: 38613540Free PMC Article
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Sassi C, Nalls MA, Ridge PG, Gibbs JR, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Bras J; ARUK Consortium, Blumenau S, Thielke M, Josties C, Freyer D, Dietrich A, Hammer M, Baier M, Dirnagl U, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Goate AM, Singleton AB, Guerreiro R, Hodges A, Hardy J
Neurobiol Aging 2018 Jun;66:179.e17-179.e29. Epub 2018 Feb 2 doi: 10.1016/j.neurobiolaging.2018.01.015. PMID: 29544907Free PMC Article
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Solders M, Martin DA, Andersson C, Remberger M, Andersson T, Ringdén O, Solders G
Bone Marrow Transplant 2014 Aug;49(8):1046-51. Epub 2014 May 5 doi: 10.1038/bmt.2014.93. PMID: 24797185
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation.
Shapiro EG, Lockman LA, Balthazor M, Krivit W
J Inherit Metab Dis 1995;18(4):413-29. doi: 10.1007/BF00710053. PMID: 7494400

Diagnosis

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A
Cytotherapy 2024 Jul;26(7):739-748. Epub 2024 Apr 1 doi: 10.1016/j.jcyt.2024.03.487. PMID: 38613540Free PMC Article
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S
Eur J Paediatr Neurol 2024 Mar;49:141-154. Epub 2024 Mar 9 doi: 10.1016/j.ejpn.2024.03.003. PMID: 38554683
Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy.
Wu C, Sun Q, Fan D
JAMA Neurol 2018 Mar 1;75(3):374-375. doi: 10.1001/jamaneurol.2017.4527. PMID: 29340559
Leukoencephalopathies associated with inborn errors of metabolism in adults.
Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, Lyon-Caen O
J Inherit Metab Dis 2008 Jun;31(3):295-307. Epub 2008 Feb 25 doi: 10.1007/s10545-008-0778-0. PMID: 18344012
CT and MRI in late-onset metachromatic leukodystrophy.
Reider-Grosswasser I, Bornstein N
Acta Neurol Scand 1987 Jan;75(1):64-9. doi: 10.1111/j.1600-0404.1987.tb07891.x. PMID: 3577670

Therapy

Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Solders M, Martin DA, Andersson C, Remberger M, Andersson T, Ringdén O, Solders G
Bone Marrow Transplant 2014 Aug;49(8):1046-51. Epub 2014 May 5 doi: 10.1038/bmt.2014.93. PMID: 24797185

Prognosis

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L
Mol Genet Metab 2022 Nov;137(3):273-282. Epub 2022 Sep 30 doi: 10.1016/j.ymgme.2022.09.009. PMID: 36240581
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.
Eichler F, Sevin C, Barth M, Pang F, Howie K, Walz M, Wilds A, Calcagni C, Chanson C, Campbell L
Orphanet J Rare Dis 2022 Oct 4;17(1):370. doi: 10.1186/s13023-022-02518-z. PMID: 36195888Free PMC Article
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Solders M, Martin DA, Andersson C, Remberger M, Andersson T, Ringdén O, Solders G
Bone Marrow Transplant 2014 Aug;49(8):1046-51. Epub 2014 May 5 doi: 10.1038/bmt.2014.93. PMID: 24797185
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J
Neurology 2006 Sep 12;67(5):859-63. doi: 10.1212/01.wnl.0000234129.97727.4d. PMID: 16966551
Globoid cell leukodystrophy (Krabbe's disease): update.
Suzuki K
J Child Neurol 2003 Sep;18(9):595-603. doi: 10.1177/08830738030180090201. PMID: 14572137

Clinical prediction guides

Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.
Zhang Z, Jiang H, Huang L, Liu S, Zhou X, Cai Y, Li M, Gao F, Liang X, Tsang KS, Chen G, Ma CY, Chai YH, Liu H, Yang C, Yang M, Zhang X, Han S, Du X, Chen L, Hwu WL, Zhuo J, Lian Q
Protein Cell 2025 Jan 4;16(1):16-27. doi: 10.1093/procel/pwae037. PMID: 38916435Free PMC Article
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L
Mol Genet Metab 2022 Nov;137(3):273-282. Epub 2022 Sep 30 doi: 10.1016/j.ymgme.2022.09.009. PMID: 36240581
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.
Eichler F, Sevin C, Barth M, Pang F, Howie K, Walz M, Wilds A, Calcagni C, Chanson C, Campbell L
Orphanet J Rare Dis 2022 Oct 4;17(1):370. doi: 10.1186/s13023-022-02518-z. PMID: 36195888Free PMC Article
Leukoencephalopathies associated with inborn errors of metabolism in adults.
Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, Lyon-Caen O
J Inherit Metab Dis 2008 Jun;31(3):295-307. Epub 2008 Feb 25 doi: 10.1007/s10545-008-0778-0. PMID: 18344012
What can cell biology tell us about heterogeneity in lysosomal storage diseases?
Gieselmann V
Acta Paediatr Suppl 2005 Mar;94(447):80-6; discussion 79. doi: 10.1111/j.1651-2227.2005.tb02118.x. PMID: 15895717

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...