Article
Juvenile metachromatic leukodystrophy caused by a rare genetic mutation.
Neurogenetics - 20 Dec 2025
Dos Santos Ferreira Márcia Cibele Andrade, de Souza Benedito Herbert, Dos Santos Costa Barbara Barbosa, de Arruda Brenda Basilio, de Souza Luís Henrique Nunes, Ferreira Luiz Eduardo Nunes
Abstract excerpt
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...
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