ArticleJournal of molecular neuroscience : MN2021
Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
Article in Journal of molecular neuroscience : MN, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 8 citations in OpenAlex.
- Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.Biochemical genetics · 2026Article
- Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.Metabolic brain disease · 2024Article
- Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.Genome biology · 2023Article
- Case report: A compound heterozygous mutations inFrontiers in neurology · 2022Article
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11 authors at 1 institution in 1 country.
Funding
Abstract
Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are abnormal gait, and then gradually appears ataxia, spastic quadriplegia, optic atrophy, cortical blindness, and dementia. We describe two patients in China who were diagnosed with MLD and find that the four ARSA gene mutations (c.1115G>A, c.302G>T, c.893 G> T, and c.302G>T) are associated with MLD, in which c.893 G>T and c.302G>T are novel mutations by gene sequence and clinical manifestations, to further understand the relationship between MLD and ARSA gene.
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