ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

doi:10.1002/jimd.70072

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Article

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Journal of inherited metabolic disease - 1 Sept 2025

Beerepoot Shanice, Schoenmakers Daphne H, Fumagalli Francesca, Groeschel Samuel, Schöls Ludger, Schiffmann Raphael, Wong Sheila, Boespflug-Tanguy Odile, Sevin Caroline, Nadjar Yann, Bley Annette, Mochel Fanny, Horn Morten A, Baldoli Cristina, Locatelli Sara, Hengel Holger, Laugwitz Lucia, Hollak Carla E M, Gieselmann Volkmar, van der Knaap Marjo S, Wolf Nicole I

Abstract excerpt

Patients with metachromatic leukodystrophy (MLD) show variable motor and cognitive decline. The ARSA variants c.256C>T, p.(Arg86Trp), c.257G>A, p.(Arg86Gln) and c.542T>G, p.(Ile181Ser) are associated with predominantly cognitive decline. This multinational study analyzed MLD onset type, presenting signs/symptoms, cognitive function, gross motor function, central motor tract involvement, MRI severity score,...

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Topics

Adolescent
Adult
Child
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Humans

Male

Middle Aged

Young Adult

Cerebroside-Sulfatase

Cognitive Dysfunction

Hematopoietic Stem Cell Transplantation

Leukodystrophy, Metachromatic

Magnetic Resonance Imaging

Mutation

Source

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Identifiers

PMID: 40751594
DOI: 10.1002/jimd.70072
PMCID: PMC12317651

Genes

ARSA

Variants

Provenance

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