TY  - JOUR
AU  - Beerepoot, Shanice
AU  - Schoenmakers, Daphne H
AU  - Fumagalli, Francesca
AU  - Groeschel, Samuel
AU  - Schöls, Ludger
AU  - Schiffmann, Raphael
AU  - Wong, Sheila
AU  - Boespflug-Tanguy, Odile
AU  - Sevin, Caroline
AU  - Nadjar, Yann
AU  - Bley, Annette
AU  - Mochel, Fanny
AU  - Horn, Morten A
AU  - Baldoli, Cristina
AU  - Locatelli, Sara
AU  - Hengel, Holger
AU  - Laugwitz, Lucia
AU  - Hollak, Carla E M
AU  - Gieselmann, Volkmar
AU  - van der Knaap, Marjo S
AU  - Wolf, Nicole I
TI  - ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
JO  - Journal of inherited metabolic disease
VL  - 48
IS  - 5
SN  - 0141-8955
CY  - Hoboken, NJ
PB  - Wiley
M1  - DZNE-2025-00915
SP  - e70072
PY  - 2025
AB  - 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
KW  - Humans
KW  - Leukodystrophy, Metachromatic: genetics
KW  - Male
KW  - Female
KW  - Adult
KW  - Cognitive Dysfunction: genetics
KW  - Adolescent
KW  - Cerebroside-Sulfatase: genetics
KW  - Young Adult
KW  - Child
KW  - Middle Aged
KW  - Magnetic Resonance Imaging
KW  - Child, Preschool
KW  - Hematopoietic Stem Cell Transplantation
KW  - Mutation
KW  - ARSA gene (Other)
KW  - arylsulfatase A (Other)
KW  - genetic association studies (Other)
KW  - hematopoietic stem cell transplantation (Other)
KW  - metachromatic leukodystrophy (Other)
KW  - Cerebroside-Sulfatase (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40751594
C2  - pmc:PMC12317651
DO  - DOI:10.1002/jimd.70072
UR  - https://pub.dzne.de/record/280237
ER  -