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Article

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.

Psychiatric genetics - 1 Jun 2025

Şimşek Levent, Özden Sena, Ak Mehmet, Yildirim Mahmut Selman

Abstract excerpt

BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA). Accumulation of sulfatide, substrate of ARSA, in the central and peripheral nervous system causes neurodegeneration, which leads to neurologic and psychiatric symptoms. Adult-onset MLD is the least frequent type of MLD and shows both genetic and clinical heterogeneity. The clinical...

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Source

Identifiers

PMID: 40145887
DOI: 10.1097/YPG.0000000000000387

Genes

ARSA

Variants

Provenance

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