%0 Journal Article
%A Beerepoot, Shanice
%A Schoenmakers, Daphne H
%A Fumagalli, Francesca
%A Groeschel, Samuel
%A Schöls, Ludger
%A Schiffmann, Raphael
%A Wong, Sheila
%A Boespflug-Tanguy, Odile
%A Sevin, Caroline
%A Nadjar, Yann
%A Bley, Annette
%A Mochel, Fanny
%A Horn, Morten A
%A Baldoli, Cristina
%A Locatelli, Sara
%A Hengel, Holger
%A Laugwitz, Lucia
%A Hollak, Carla E M
%A Gieselmann, Volkmar
%A van der Knaap, Marjo S
%A Wolf, Nicole I
%T ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
%J Journal of inherited metabolic disease
%V 48
%N 5
%@ 0141-8955
%C Hoboken, NJ
%I Wiley
%M DZNE-2025-00915
%P e70072
%D 2025
%X 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, peripheral neuropathy, and survival of 47 patients (three homozygous for c.256C>T and five, twelve and 27 compound heterozygous for c.256C>T, c.257G>A, or c.542T>G and another ARSA variant, respectively). Eleven underwent hematopoietic stem cell transplantation (HSCT). Onset was late-juvenile (46.8
%K Humans
%K Leukodystrophy, Metachromatic: genetics
%K Male
%K Female
%K Adult
%K Cognitive Dysfunction: genetics
%K Adolescent
%K Cerebroside-Sulfatase: genetics
%K Young Adult
%K Child
%K Middle Aged
%K Magnetic Resonance Imaging
%K Child, Preschool
%K Hematopoietic Stem Cell Transplantation
%K Mutation
%K ARSA gene (Other)
%K arylsulfatase A (Other)
%K genetic association studies (Other)
%K hematopoietic stem cell transplantation (Other)
%K metachromatic leukodystrophy (Other)
%K Cerebroside-Sulfatase (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40751594
%2 pmc:PMC12317651
%R 10.1002/jimd.70072
%U https://pub.dzne.de/record/280237