Juvenile metachromatic leukodystrophy caused by a rare genetic mutation.

Márcia Cibele Andrade Dos Santos Ferreira, Benedito Herbert de Souza, Barbara Barbosa Dos Santos Costa, Brenda Basilio de Arruda, Luís Henrique Nunes de Souza, Luiz Eduardo Nunes Ferreira

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Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Márcia Cibele Andrade Dos Santos FerreiraLaboratory of Inflammation and Immunology, Guarulhos University, Praça Tereza Cristina, 88, Guarulhos, SP, Brazil.ORCID http://orcid.org/0000-0002-7447-7288

Benedito Herbert de SouzaDepartment of Medical Physics and Radiological Protection, Federal University of São Paulo, Rua Napoleão de Barros, 800, São Paulo, SP, Brazil.ORCID http://orcid.org/0009-0002-8341-5561

Barbara Barbosa Dos Santos CostaLaboratory of Inflammation and Immunology, Guarulhos University, Praça Tereza Cristina, 88, Guarulhos, SP, Brazil.ORCID http://orcid.org/0009-0003-6343-0016

Brenda Basilio de ArrudaLaboratory of Inflammation and Immunology, Guarulhos University, Praça Tereza Cristina, 88, Guarulhos, SP, Brazil.ORCID http://orcid.org/0009-0001-6403-2242

Luís Henrique Nunes de SouzaLaboratory of Inflammation and Immunology, Guarulhos University, Praça Tereza Cristina, 88, Guarulhos, SP, Brazil.ORCID http://orcid.org/0000-0003-4544-9701

Luiz Eduardo Nunes FerreiraLaboratory of Inflammation and Immunology, Guarulhos University, Praça Tereza Cristina, 88, Guarulhos, SP, Brazil. luiz.ferreira@prof.ung.br.ORCID http://orcid.org/0000-0002-4882-5402

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of arylsulfatase A (ASA), with several clinical variants. A clinical report of juvenile MLD caused by a rare genetic mutation was characterized over time. This study aims to describe the disease progression through the analysis of long-term data. This is a retrospective observational study in which clinical, genetic, and biochemical parameters were analyzed. Changes in neuroanatomical patterns were analyzed by MRI over time. N-acetylaspartate (NAA) variation was also measured. This study is one of the first to report a rare splice-site mutation (c.1211–2 A > G) in the ARSA gene associated with juvenile MLD. MRI analysis revealed frontal periventricular hyperintensity, demyelination of the corpus callosum and development of a tigroid pattern. The cerebellum was less affected over time. Reduction in NAA levels was consistent with clinical symptoms. This study enhances understanding of the disease progression in juvenile MLD, contributing to the differentiation of MLD subtypes and supporting improved clinical management and counseling for patients with MLD.

Indexed as

Cerebroside-SulfataseLeukodystrophy, MetachromaticMutationAdolescentAspartic AcidBrainDisease ProgressionFemaleHumansMagnetic Resonance ImagingAspartic AcidCerebroside-SulfataseN-acetylaspartateARSA-MLD alleleArylsulfatase AJuvenile metachromatic leukodystrophyMRIN-acetylaspartateNatural course

Identifiers

PMID41420731

DOI10.1007/s10048-025-00866-z

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